Frequently Asked Questions
Please keep in mind that a series of excellent tests can never guarantee 100% that your baby will be perfectly formed and healthy when born as many significant conditions are simply not detectable before your baby is born. Some small risk is therefore always going to remain.
There are multiple prenatal tests available during pregnancy. Some are optional and may depend on whether one can afford it or not. Below you will find a summary made available courtesy of the SASOG in Afrikaans, English and IsiXhosa. Visit the link below.
Patient Information Leaflets
Although many practitioners call themselves fetal specialists because they limit their practice to ultrasound examinations during pregnancy, this term is very misleading as “fetal specialist” is not a recognised qualification for HPCSA registration and the level of expertise can be highly variable.
Before you decide where to go for your ultrasound examination, please discuss it with your obstetrician / gynaecologist to make sure you get the level of care that you and your baby require.
If there are specific risk factors in a pregnancy, or ultrasound findings or other screening tests indicating a possible problem with the baby, the ultrasound evaluation should ideally be done by a MFM or a SASUOG endorsed sonologist. These risk factors include medical problems (such as diabetes), medication, drug or alcohol usage, or family members with inborn problems.
Sonographer
A sonographer is a healthcare professional (not a doctor) trained to obtain, describe and interpret ultrasound images. Their training can last from three to five years at one of the Universities of Technology and sonographers need to be registered in ultrasonography with the health professions council of SA (HPCSA). A sonographer might work independently, or in a practice together with a sonologist, radiologist or maternal and fetal medicine specialist, but cannot undertake clinical management independently. An ultrasound examination with a sonographer is an excellent (and often cost-effective) choice if there are no particular risk factors in your pregnancy and screening results have been normal.
Midwife
A midwife is a specialised nurse who provides help and advice to women during pregnancy, labour and the time after delivery and has obtained an additional advanced midwifery diploma after qualifying for and registering as a professional nurse or staff nurse with the HOCSA. A midwife usually only performs basic ultrasound examinations in pregnancy (e.g., confirmation and dating of pregnancy, determining the baby’s position in the uterus).
Sonologist
A sonologist is a doctor, usually a general practitioner, who predominantly focuses his or her practice on performing ultrasound examinations. The training required for this is the general medical training of eight years as a doctor, followed by additional training in ultrasound. Sonologists are not registered as a special category with the HPCSA as there is no nationally prescribed training program for sonologists and no official regulation regarding minimum standards. The training of South African sonologists is highly variable in time and quality and a sonologist can be skilled to perform only basic or more advanced ultrasound examinations, depending on his or her level of expertise. If an advanced ultrasound assessment of a pregnancy is required, only sonologists endorsed by SASUOG for specialised fetal scans are recommended (see website) as they have the expertise to diagnose and manage fetal problems.
Obstetrician (O&G)
An obstetrician / gynaecologist (O&G) is a doctor who has specialized in obstetrics and gynaecology by completing an additional four years’ specialist training program after qualifying as a general practitioner. The O&G usually performs basic ultrasound examinations as part of his / her obstetrical and gynaecological care but some also perform more advanced ultrasound examinations after having undergone additional training on a voluntary basis.
Maternal and Fetal Medicine Specialist (MFM)
A maternal and fetal medicine specialist (MFM) is an obstetrician and gynaecologist who has specialised in maternal and fetal medicine by completing an additional two years’ training program after qualifying as an O&G. MFMs are registered as subspecialists in MFM with the HPCSA and have the expertise to diagnose and manage fetal and maternal problems.
During the consultation we not only evaluate markers for chromosomal abnormalities, but screen for major structural abnormalities as well.
It reduces the number of women requiring an invasive test from about 20 % to less than 3 %. At the same time increasing the detection rate of Down’s syndrome and other major chromosomal abnormalities from less than 50 % to more than 95 %.” Nicolaides, FMF London
Please bring along your referral letter, co-payment (if applicable) and first-trimester report if done by another health care professional (sonographer, sonologist, gynaecologist or fetal medicine specialist).
During embryology spontaneous faults can arise in the development of your baby. The purpose of the examination is to evaluate the fetus for structural abnormalities so that if need be one can be prepared for once the baby is born or opt for further testing a) if one would consider termination or b) for peace of mind.
Please load the leaflet here. The better obs leaflet.
Additional Patient Information
These information leaflets are made available courtesy of ISUOG, though in itself accurate, may not be applicable to you and your pregnancy. Our recommendation is that you contact your obstetrician/midwife who will refer you to a fetal medicine specialist, geneticist or genetic counsellor who can give you valuable information on the condition that may affect your baby.
Always treat information on websites as sources of questions, not answers.
General Pregnancy Information
What is an Ultrasound scan?
An ultrasound scan is an easy way to look at the developing fetus inside your uterus. The image can be enlarged to view the uterus (womb), the placenta (afterbirth), the amniotic fluid (the water around the baby) and the anatomy of the baby.
Is it safe for me and for my baby?
Ultrasound scans have been performed in pregnancy for more than 30 years – until now there are no known risks for you or your fetus. Sound waves can generate heat as they cause small vibrations. This heat is minimal and disappears quickly but can build up if the scan is performed over a long period of time in the same area. Therefore, it is important that the professional doing your ultrasound keeps that in mind while performing the examination. There are international safety regulations to which all companies making ultrasound equipment have to comply.
Why do I need a scan in pregnancy?
Your scan is an important part of your pregnancy care. In the past doctors and midwives relied on external or internal physical examinations only. Whilst this is still important, scans can provide much more information. It is the only way of “seeing” the baby. Sometimes the physical examination may suggest a problem (for example: the abdomen feels too small or too big for the week of pregnancy). Ultrasound can provide more information on the growth of the baby and the amount of amniotic fluid. Scans may be performed at various times in pregnancy with different aims. The number of these scans will vary according to where you are having your scan and whether any problems are suspected.
The following clinical questions can be answered by these routine scans:
Scans in early pregnancy (up to 10 weeks):
– Is the pregnancy in the uterus?
– How many babies are there?
-If twins, what kind of twins are they?
– Is the baby alive (has a heartbeat)?
– When is the due date? (dating scan)
11-14 weeks scan:
– Is the baby early development appearing normal?
– How many babies are there?
– If twins, what kind of twins are they?
– Are there any anomalies visible?
– Is there extra fluid in the neck? (nuchal translucency screening)
– When is the due date? (dating scan)
During this scan you may also be given the option to have a risk assessment for chromosomal anomalies (such as Down syndrome). Ask for more information on the possibilities to your doctor or midwife.
20 weeks (2nd trimester/anatomy) scan:
– When is the due date? (less reliable than done earlier)
– How many babies are there? – Is the baby growing well?
– Are there any problems suspected for the baby? (anatomy scan)
– Where is the placenta located in the uterus?
– Is there a normal amount of amniotic fluid?
Growth scans (in the third trimester/last 3 months of pregnancy):
– Is the baby growing well?
– Is there a normal amount of amniotic fluid?
– What is the baby’s position?
– Are there problems suspected that could not be seen earlier?
Doppler (blood flow) examination:
The ultrasound machine can also examine the flow of blood to the placenta or within certain blood vessels. Colour Doppler may be used to identify the vessels that will show in red or blue colours, according to the direction of blood flow. Blood flow produces a special sound which resembles the heartbeat. This examination can add important information on how well the placenta is working and on the condition of the fetus.
Special and additional ultrasound scans in pregnancy:
Cervical length measurement
This investigation is performed using a small probe inserted into the vagina (transvaginally) with the purpose of measuring the length of the cervix. If the cervix is short the doctor or midwife will discuss whether there is an increased chance of premature birth and possible measures to prevent it.
Anomaly scan and Fetal heart examination
If during the scan any suspicious finding is seen, the person performing the scan may refer you to a specialist. Sometimes, if the area of concern is specific (such as the heart) you may see a different sort of specialist, such as a heart specialist (fetal cardiologist). The scan may be repeated in more detail to look for the condition that is suspected. Further tests may be suggested. You may need to wait for results of these tests but should be told when to expect them and how you will be informed. You may feel anxious during this time and your doctor/midwife should recommend someone for you to talk to if you want to.
3D Scans
Many ultrasound machines are currently able to produce 3D pictures. These pictures can be useful to add some details when anomalies are suspected. The person performing the scan will decide if a 3D scan is necessary.
Do I have to have a scan in pregnancy?
No, the scan is ‘your choice’. However, ultrasound is the only technique that allows the possibility to look at the fetus. The information is important for good pregnancy care and most doctors and midwives consider the scan a key part of this. It is however important that the purpose of the scan is explained so that you are not confronted with unwanted information. Ultrasound is not perfect and it can miss problems or incorrectly classify them. Further tests or a repeat scan may be required to confirm the findings. It is not unusual for an ultrasound scan to suggest one problem and for another to be found after the baby is born. Ultrasound examinations are best considered as a way to obtain images and information that will be interpreted at a later stage. That could be straight after your scan or at a later date. This will depend on how the ultrasound scan service is arranged locally and may differ for different doctors and clinics.
Scans for fun
To see your baby can be a very positive experience however, the medical exam aims to check for problems not just pictures. Because a scan can be fun, there are many clinics (eg. in shopping malls) that offer scan just for this purpose. You should be aware that sometimes even a “scan for fun” ultrasound can reveal unexpected problems with the baby and the pregnancy. In addition, the “scan for fun” may not look in the same details as the medical examination and may miss important information so there is a big difference between the two.
What is Early Pregnancy Ultrasound?
Some doctors will refer to early pregnancy as the period when the baby is still an embryo, which corresponds to the period from conception to 10 weeks after the first day of the last menstrual period, or 8 weeks after conception. Others may include the first three months of pregnancy (first trimester ultrasound).
What are the goals of the Early Pregnancy Ultrasound?
Early pregnancy ultrasound has several goals, including:
- Verify that the pregnancy is present
- Determine the gestational age
- Determine number of embryos / fetuses
- Check that the pregnancy is developing well
- Check for abnormalities including abnormal location of the pregnancy (i.e., to rule out ectopic pregnancy, a complication where the implantation site is outside the uterus) or abnormal appearance of the embryo / fetus (i.e., certain birth defects that can be identified very early)
- Screening for genetic issues such as Down syndrome
How is the early pregnancy ultrasound performed, and how do I prepare?
Early pregnancy ultrasound is typically done in your doctor’s office. The doctor or sonographer may start the examination using an abdominal ultrasound probe applied to your lower belly. The examiner will apply a layer of ultrasound gel to your skin, which helps the sound waves travel from the probe into your body. In many cases a transvaginal probe may be needed to better see the embryo / fetus and the pregnancy, in which case the probe, covered by a sterile cover and with a bit of gel, will be inserted gently into the vagina. This brings the probe closer to the pregnancy and allows the sonographer to visualize the embryo / fetus and gestational sac, as well as your uterus (womb) and cervix, in optimal fashion. Be prepared for this to be done when you are scheduled for your early pregnancy ultrasound. No other special preparation is needed to have your early pregnancy ultrasound.
What are the things to watch for during my early pregnancy ultrasound?
Your doctor will examine the gestational sac, the appearance and size of the embryo / fetus, your ovaries and womb. The doctor will also look at a rounded structure called the yolk sac, which is an important part of the early development of the pregnancy. You will likely be offered screening for genetic issues such as Down syndrome, based on measuring the thickness of the back of the neck of the fetus, called nuchal translucency.
How accurate is the early pregnancy ultrasound or first trimester ultrasound in detecting fetal anomalies, and do I need to have the 18-20 weeks ultrasound after having a first trimester or early pregnancy ultrasound?
Your doctor will likely tell you about the limitations of early ultrasound. It is not possible to detect some anomalies at this early in the pregnancy while the embryo / fetus is at this size and stage of development. Although some anomalies can be detected early, the early pregnancy/first trimester ultrasound does not substitute the 18-20 weeks “anatomy survey” ultrasound. It is recommended that you still have such ultrasound, even if you have had a first trimester or early pregnancy ultrasound.
Can early pregnancy ultrasound tell my baby’s sex?
The external appearance of the baby’s genitalia is not differentiated (i.e., visibly male or female) until 12 weeks of gestation and therefore even if the ultrasound was optimal, we would not expect it to allow visualization of the external appearance of the fetal sex/genitalia. It is possible to see the external appearance of the fetal genitalia after 12 weeks of gestation.
What questions should I ask?
- Is the pregnancy implanted normally inside my womb?
- Are there one or more fetuses?
- Are there any apparent fetal anomalies?
- Is the growth of the embryo / fetus in agreement with the size expected according to the date of my last menstrual period?
- What is my estimated due date?
- Aside from nuchal translucency, what are the other options for testing or screening for genetic abnormalities?
Second Trimester Information
Brain
What is an agenesis of the septum pellucidum?
Agenesis of the septum pellucidum means that the walls of a small fluid filled space located in the middle of the brain are not seen on ultrasound. Those walls usually attach to the corpus callosum on top (a portion of the brain that connects the left and the right sides of the brain), and the fornix (a normal bundle of nerves in the brain) at the base. They are between the CSP (the fluid filled space) and the anterior horns of the lateral ventricles (two of the normal fluid filled space in the brain). It can often be associated with other changes in the area, most often a change in the nerves to the eyes and a small organ called pituitary, which produces many hormones.
How does an agenesis of the septum pellucidum happen?
It is usually not known why this happen. Most cases happen by chance. In some cases, a change in a specific part of the genetic make-up of the fetus (the area called HESX1) is found as the likely explanation for the finding. In other cases, an infection or exposure to a chemical is the suspected cause. It can also be seen in cases where there are many other anomalies in the brain that prevents is formation or lead to its collapse.
Should I have more tests done?
If agenesis of the septum pellucidum is suspected, you should be offered a thorough examination by ultrasound of the brain of the fetus. This sometimes can include scanning with a vaginal probe. Many women will also be offered an MRI (magnetic resonance imaging) test to obtain different images of the brain and the area around the septum pellucidum using a different machine which is safe in pregnancy.
What are the things to watch for during the pregnancy?
Once this is found, there is no need to change your pregnancy care. Ultrasound will likely be repeated later in the pregnancy to assess for any changes to the appearance of the brain.
What does it mean for my baby after it is born?
How the baby does after it is born depends on the other findings in the brain. If a severe anomaly is the cause for the finding, the baby may have significant problems. In 1 out of 4 cases, it is associated with problems with the nerves to the eyes and the pituitary gland. If this is the case, vision can be decreased, certain hormones may be missing but most children will have normal intelligence. If it is completely isolated, meaning that there are no other changes in the brain, the outcome is similar to the general population.
Will it happen again?
Unless there is a genetic cause for this finding, the risk of it happening again is very low.
What is a Choroid plexus cyst?
Located on the left and the right side of the brain, the choroid plexus is a gland that produces cerebrospinal fluid. This fluid bathes and protects the brain and spinal column. In 1 to 2% of babies, a cyst- a small round fluid filled area- is formed in the choroid plexus.
How does it happen?
The exact cause of choroid plexus cyst is unknown. It is a collection of fluid, like a blister and not an abnormality of the brain matter itself.
How are chromosomes relevant to the presence of Choroid Plexus Cyst?
Chromosomes are where most of our genetic information is kept. We usually have 46 of them matched in pairs: 23 come from one parent and the other 23 come from the other parent. For example, people with Trisomy 18 have an extra chromosome number 18. There have been reports associating a choroid plexus cyst with Trisomy 18. Fetuses with trisomy 18 have choroid plexus cysts about one third of the time. In fetuses with choroid plexus cysts, 2.1% have an abnormal number of chromosomes, with the majority having other anomalies that can be seen on the ultrasound. However, when no other anomalies are seen on the ultrasound, the risk of a change in the number of chromosomes is still around 1 in 300.
Should I have more tests done?
You will usually have a detailed ultrasound examination of the fetus to check if any other abnormality exists. In absence of any other abnormality, in most situations, no further tests are necessary. You midwife or doctor will be able to help you decide. If an additional abnormality is found, you will likely be offered a test to get more information about the chromosomes of the fetus. This could be a non-invasive prenatal test (NIPT) or an amniocentesis, depending on what is available and your choice.
What are the things to watch for during the pregnancy?
An isolated finding of a choroid plexus cyst does not alter the management of pregnancy. Most of the cysts resolve by 28 weeks.
What does it mean for the baby after it is born?
Studies evaluating outcomes in children with normal chromosomes born after prenatal diagnosis of choroid plexus cysts have not shown any differences in brain function, motor function or behavior. Therefore, no postnatal evaluation is necessary.
What is Microcephaly?
A Diagnosis of Microcephaly refers to some babies having a small head when measured by ultrasound during pregnancy, and with a tape measure around the head after birth. If the baby’s head circumference is much smaller than the average head circumference for their age group or the week of pregnancy, he/she is said to have microcephaly. Typically, the measurement would have to be two standard deviations (2SD) or more below the average, or smaller than about 95% of fetuses or babies of the same age, to be described as microcephaly. Ultrasonography for the determination of microcephaly is best done at 28 weeks or in the third trimester of pregnancy.
How does Microcephaly happen?
There are a number of potential causes of microcephaly. Microcephaly may be inherited if one or both parents is/are affected. Chromosomal abnormalities such as Down syndrome may result in the development of a small head. Contracting certain infections whilst pregnant may result in the baby getting microcephaly, such infections include cytomegalovirus (CMV), rubella, HIV, toxoplasmosis, herpes, syphilis and most recently Zika. Maternal consumption of alcohol, certain drugs, or smoking during pregnancy as well as severe malnutrition can increase the risk of microcephaly in the fetus, as can maternal exposure to ionizing radiation or heavy metals such as mercury and arsenic. Injury to the developing brain of a fetus or newborn baby may also result in the development of microcephaly.
Should I have more tests done?
Additional testing would be guided by the suspected cause of microcephaly. Other features seen in your baby’s anatomy could warrant investigations for a specific disease or syndrome. A magnetic resonance imaging (MRI) scan may be needed in certain situations to assist in making a determination of the cause of microcephaly. If a chromosomal abnormality is suspected, genetic testing can be performed; if a viral infection is suspected, maternal and fetal tests, such as a blood draw and/or amniocentesis, can be performed to help determine if the baby was infected.
What are the things to watch out for during the pregnancy?
Babies may have no other symptoms at birth apart from having a small head. Because a small head may be associated with certain disease conditions, it is important to monitor the unborn baby well during pregnancy to ensure that growth is adequate and rule out other anatomic malformations. This monitoring can be achieved through regular antenatal clinic attendance and repeated ultrasound scanning, assessing for any evidence of growth restriction or other problems.
What does it mean for my baby after it is born?
Some babies with microcephaly may not develop any other symptoms apart from the small head, and having a small head is not necessarily a predictor of your child’s functional outcome. Others may however develop certain problems depending on the cause of the microcephaly, which can include developmental delays or learning difficulties, problems seeing and/or hearing, cerebral palsy, seizures, and hyperactivity. After delivery, you might be referred to a physician who specializes in treating babies like yours, such as a pediatric neurologist. They can monitor your baby’s continued growth and development and work with you to devise a treatment plan that suits your baby’s individual needs. While there is no specific treatment for microcephaly, early intervention with stimulation and play programs is beneficial, as well as working with specialized personnel (for example, physical, occupational, or speech therapists, and others).
Will it happen again?
The chances of microcephaly happening again in subsequent pregnancies depend on the underlying cause. It is highly variable and may range from 50% to 25% depending on whether one or both parents are affected. If the microcephaly is due to a chromosomal abnormality such as Down syndrome, the risk is about 1% in addition to the maternal age-related risk. If the microcephaly resulted from an infection or an exposure to other agents, the risk in subsequent pregnancies is minimal.
Face
Prevalence:
- 1 in 700 births.
- More common in males than females and in Whites than Blacks.
- In 50% of cases, both the lip and palate are affected, in 25% only the lip and in 25% only the palate.
- Unilateral in 75% of cases (more common on the left side) and bilateral in 25%.
Ultrasound diagnosis:
- The typical cleft lip appears as a linear defect extending from one side of the lip into the nostril. Cleft palate associated with cleft lip may extend through the alveolar ridge and hard palate, reaching the floor of the nasal cavity or even the floor of the orbit.
- Both transverse and coronal planes are necessary for the diagnosis. Colour Doppler may be useful to demonstrate flow across the palate in the case of cleft palate.
- Diagnosis of isolated cleft palate is difficult.
- Diagnosis of cleft lip and palate at 11-13 weeks’ gestation can be achieved by targeted examination of the retro nasal triangle in a coronal view and the maxillary gap in the standard mid-sagittal view of the face used routinely in screening for chromosomal abnormalities.
Associated abnormalities:
- Chromosomal abnormalities, mainly trisomies 13 and 18, are found in 1–2% of cases. Unilateral cleft lip is not associated with chromosomal abnormalities.
- Associated with any one of >400 syndromes in 30% of cases. The most common are: Goldenhar syndrome (sporadic; anophthalmia, ear defects, facial cleft, facial macrosomia),Treacher–Collins syndrome (autosomal recessive or autosomal dominant with 60% de novo mutations; hypoplasia of the maxilla and zygomatic bone, micrognathia, cleft palate, malformed or absent ears), Pierre–Robin anomalad (micrognathia or retrognathia, cleft palate and glossoptosis. In half of cases this a sporadic isolated finding and in the other half it is associated with other anomalies or with recognized genetic and non-genetic syndromes).
Investigations:
- Detailed ultrasound examination.
- Invasive testing for karyotyping and array.
Prognosis:
- This primarily depends on the presence and type of associated anomalies.
- Isolated: Good prognosis and normal survival.
- Surgical repair is at 3-6 months of age.
- Long-term issues in children with cleft lip and palate include dental abnormalities, hearing and olfactory problems, midface hypoplasia, and psychological problems. About 25% have speech abnormalities requiring secondary palate surgery and speech therapy. Dental anomalies include missing, extra, or malpositioned teeth and they require braces on their permanent teeth. Most children have hearing abnormalities and may require myringotomy with placement of bilateral tympanotomy tubes to improve hearing. Regular psychological screening is recommended to assess the child’s cognitive development, behavior, and self-image.
Recurrence:
- Isolated: 5% if one sibling or parent is affected and 10% if two siblings are affected.
- Syndromic: all forms of inheritance have been described, including autosomal dominant, autosomal recessive, X-linked dominant and X-linked recessive.
Chest and Heart
What is a CDH?
A CDH happens when the diaphragm, which is the muscle between the abdomen and the chest, does not develop completely. This results in a hole forming, through which, organs from the abdomen, (like the bowel, the stomach and sometimes the liver), go up inside the chest, where the lungs and the heart are.
How does a CDH happen?
It is not clear why a CDH occurs. It is a rare condition and happens in about 1 in 5000 babies. In most cases, a CDH occurs simply due to bad luck and not due to other factors. Almost half of the babies with a CDH will have other problems, most often with their heart or gut. In 2 out of 10 cases, there is a change in the number of chromosomes, and in 1 in 10 cases there will be a change in the information within the chromosomes themselves.
How are chromosomes relevant to a CDH?
Chromosomes are where most of our genetic information is kept. We usually have 46 of them matched in pairs: 23 come from one parent and the other 23 come from the other parent. For example, people with Down syndrome have an extra chromosome number 21, and people with CHARGE syndrome have a change in the information in one of the chromosome numbers 8. Both of those conditions are seen in babies with a CDH: if a change in information within the chromosomes occurs, such genetic disorders can arise and the disorder would be the cause of the CDH.
Should I have more tests done?
Many women will choose to have more tests done to know more about the condition of the baby. The tests available depend on where you are. Tests you should ask about include:
- an amniocentesis to look for problems with the number of chromosomes and some of the problems within the chromosomes. This is done by removing small amount of amniotic fluid surrounding the fetus.
- a fetal echocardiography – a specialized ultrasound of the heart of the baby during the pregnancy, which uses sound waves that “echo” off of the structures of the fetus’ heart.
- If available, an MRI scan can sometimes be done to provide information on the condition of the baby. This scan uses strong magnetic fields and radio waves to create detailed images of the inside of the body.
What are the things to watch for during the pregnancy?
Babies with CDH are at risk of some problems during the pregnancy. That is why most specialists will recommend regular ultrasound examination at least every 4 weeks. The ultrasound will help identify if the baby is going into heart failure due to the pressure on the heart because of the other organs in the chest. Many women will also accumulate extra amniotic fluid around the baby. This condition is called polyhydramnios. It can stretch the uterus too much and cause early labour well before the due date. Knowing this in advance, your doctor or midwife can help with decreasing the risk of an early birth.
What does it mean for my baby after it is born?
The organs that are developing in the chest are affected by the upward movement of the stomach organs, and this is the biggest problem for babies with CDH. The organ that is most often compromised is the lungs. Most babies with a CDH will have lungs that are smaller. If it is the case that the lungs are too small to allow for enough oxygen to enter the baby’s body, the baby may die. Ultrasound and MRI (a different way to obtain images of a fetus inside the womb), can be used to try to predict whether the baby has a higher risk of having very small lungs. Babies who also have had the information within their chromosomes altered have even more problems after being born. This will depend on the genetic disorder. When the baby is stable, a surgeon will perform one or more surgeries to attempt to fix the hole in the diaphragm. The baby often requires very complex care in a specialized hospital for weeks after birth. When they grow up, babies who have a CDH and survive have more problems with their lungs, heart, gut, muscles and brain. Babies who are sicker after being born have a higher risk of dying or being left with long term problems like being deaf, having learning difficulties or having problems with exercising.
Will it happen again?
If no genetic reason is found to explain the CDH, the risk of this happening again is less than 1 in a 100. If there is a genetic reason, this will determine the risk, and a consultation with a specialist may be helpful to help sorting this out.
What is Aortic Stenosis?
Aortic stenosis is a congenital heart defect (present at birth) that develops abnormally during the first eight weeks of pregnancy. In a healthy heart, the left ventricle, one of the two pumping chambers of the heart, pumps blood in to the main body artery (aorta) that takes oxygenated blood to the different parts of the body. The aortic valve is the valve between the left ventricle (one of the pumping chambers) of the heart called the aorta, which distributes the blood to the head and brain, and the rest of the body. Under some circumstances the aortic valve becomes narrower than normal, restricting the flow of blood coming out of the left pumping chamber. This is known as Aortic Valve Stenosis.
How does Aortic Stenosis happen?
Significant aortic stenosis is relatively uncommon, affecting about 6 in every 1000 babies born. It can occur alone or in combination with other heart abnormalities. Aortic stenosis occurs due to improper development of the aortic valve during the early part of fetal growth. The normal aortic valve has three thin and flexible leaflets. In cases of aortic stenosis, the valve leaflets are thickened or become less pliable and fuse together. Most commonly, the abnormality occurs when the aortic valve has two instead of three leaflets (bicuspid aortic valve). The exact cause as to why this happens is not known. Most of the time this heart defect occurs by chance with no apparent reason for its development. However, sometimes it can have a genetic link and occur more often in certain families.
Should I have more tests done?
Many women will choose to have more tests done to know more about the condition of the fetus. You should also ask if fetal echocardiography, a specialised ultrasound of the heart of the baby during the pregnancy is available, or request a detailed fetal scan by a fetal medicine specialist. Additional testing includes an amniocentesis (where a thin needle is used to take some of the amniotic fluid in the womb) to look for chromosomal abnormalities, or other genetic tests, such as Chromosomal Microarray (CMA, or “chip”) which looks more closely at the genetic make-up of the fetus. You might be able to consult with a Geneticist or Genetic Counselor, who are specialists in genetic conditions.
What are the things to watch for during the pregnancy?
Babies with aortic stenosis require frequent ultrasound by a fetal medicine specialist and a paediatric cardiologist to monitor the progression of the condition. When the aortic valve does not open normally, the muscles of the left ventricle have to work harder to pump blood into the aorta. As the disease progresses, the valve obstruction becomes significant. To compensate for this increased workload the muscles of the left ventricle gradually thicken. If the valve is severely obstructed, the muscles of the left ventricle may not be able to compensate and may fail to pump blood into the aorta. In some cases, with progression, the left ventricle becomes small and non-functioning. Knowing these findings in advance can help your doctor and the care team to decide what delivery plan will be best for you and your baby. One in 10 babies with aortic stenosis is born with significant narrowing that requires emergency treatment at birth.
What does it mean for my baby after it is born?
A baby with aortic stenosis should be delivered in a tertiary center with neonatal intensive care, paediatric cardiology, and paediatric cardiothoracic facilities. This allows coordination of care and permits access to emergency services in the immediate newborn period if needed. Vaginal delivery is usually recommended and caesarean section is reserved for obstetric indications. Depending on the severity of the baby’s condition, the paediatric cardiologist will make a decision what treatment baby would require after birth. Some of these possible treatment pathways would have been discussed with you during pregnancy. Treatment would depend on the size and function of the left pumping chamber. In some cases, the baby might require a small operation to relieve the obstruction. If the left pumping chamber is very small in size then the baby would require a series of operations in order to increase the blood flow to the body and bypass the poorly functioning left pumping chamber. Overall outcomes for isolated aortic stenosis are excellent. Children should receive follow-up over time, into adulthood, to make sure the narrowing within the pulmonary artery does not get worse.
Will it happen again?
There is a slightly higher chance of this condition happening again in the next pregnancy. Genetic studies have shown that there is a 13%-15% recurrence risk of aortic stenosis in a baby if the mother is affected, a 5% risk if the father is affected, and a 2% risk if one child in the family is affected. When the heart defect recurs in another child, it is not always the same heart defect: it may be something minor or more severe.
In your next pregnancy, you can benefit from a detailed fetal heart examination early in the pregnancy (if facilities are available) or at the time of a routine fetal anomaly scan at 19-20 weeks.
What is a Coarctation of the Aorta (CoA)?
Coarctation of the Aorta is a congenital heart defect (CHD). Our hearts are comprised of four chambers, two upper chambers called atria, the right atrium and left atrium, and two lower chambers, the right and left ventricles. The ventricles are the heart’s pumping chambers; blood from the heart flows into the Great Arteries- the Aorta and the Pulmonary Artery. The left ventricle pumps blood rich in oxygen through the Aorta to the body and brain, while the right ventricle pumps oxygen-poor blood out through the Pulmonary Artery to the lungs. The Aorta runs upward toward the head then turns downward toward the body, to form the Aortic Arch. The part of the aorta below the arch is called the Descending Aorta; it supplies blood to the lower body and legs.
During fetal life, a small vessel called the ductus arteriosus allows blood flow from the pulmonary artery to be directed to the descending aorta. In coarctation of the aorta, a narrowing form along the vessel that constricts (limits) blood flow. This narrower portion of the aorta can occur anywhere, but most often it is found just past the arch, in the descending aorta. The type of coarctation is defined by its location in relation to the ductus arteriosus. The narrowing limits the blood flow to the lower part of the body and the heart has to pump harder to get past this “bottleneck”. In addition, other types of CHD may be diagnosed along with CoA. The most common is a ventricular septal defect, or VSD. A VSD is an opening in the septum, the wall of muscle that separates the two ventricles of the heart. This opening allows blood from the two sides of the heart to mix.
How does a CoA happen?
There are different theories as to why CoA happens. It seems that during the embryonic period (the first weeks of life in the womb), as the complex anatomy of the heart and blood vessels develops, CoA seems to occur from abnormal growth in some vessels that alters blood flow in the aortic arch. There may be a genetic link to CoA, but in most cases no specific cause is found. Some cases of CoA may be associated with a genetic syndrome called Turner Syndrome, which is caused by the absence of one set of genes from the short arm of one of the X-chromosomes.
Should I have more tests done?
Your caregiver may refer you for genetic counseling and genetic testing. This can provide essential information regarding your individual case. Your caregiver may refer you to specialists in fetal cardiac disease, such as an obstetrician specialising in fetal imaging, a maternal-fetal medicine specialist and/or a pediatric cardiologist. They can monitor your baby’s progress with fetal echocardiography: ultrasound scans focused on the fetal heart and cardiovascular system. You may also meet with specialists in pediatric heart surgery before delivery, to consult with you regarding the best way to manage your baby’s birth and care in the newborn nursery. Each baby with CoA is unique. Your caregivers will thoroughly examine your fetus’s heart and other organs to get the most complete picture of his/her anatomy, and to consult with you to work out a care plan that best suits your baby and your family.
What are the things to watch for during the pregnancy?
Your caregiver will probably order serial ultrasound scans, to watch carefully to assess whether the CoA is affecting your baby’s growth and well-being, and to monitor for any signs of distress. You may be asked to monitor your baby’s movements throughout the day. Your caregivers will advise you as the pregnancy progresses.
What does it mean for my baby after it is born?
This depends on many factors. Treatment will be individualised according to your baby’s needs. The severity of the coactation (how narrow the artery is at the area of the defect) and any symptoms that develop, as well as the presence of any other defects, will guide your caregivers in developing a treatment plan. In some cases of CoA there are no symptoms and no intervention is necessary. If symptoms are severe, there are ways to repair the affected segment. One approach is cardiac catheterisation. In this procedure a narrow tube is threaded into the narrow portion of the aorta and a tiny balloon is inflated there to stretch the vessel, to make it wider. Then a small device called a stent is placed to keep the segment unrestricted while the balloon is removed. In other cases, an open-heart surgery may be necessary, in which the narrow segment will be repaired or replaced. If other defects are present, these are often repaired at this time if possible.
Will it happen again?
This depends whether or not a genetic cause was found to explain the CoA, and what other anatomic findings were present. All these factors affect the likelihood of having another baby with CoA. Your caregiver will likely order early targeted fetal scanning to rule out fetal heart defects in subsequent pregnancies.
What is an interrupted Aortic Arch (IAA)?
Interrupted Aortic Arch (IAA) is a rare birth defect of the heart. Our hearts are comprised of four chambers, two upper chambers, the right atrium and left atrium, and two lower chambers, the right and left ventricles. The ventricles are the heart’s pumping chambers; blood from the heart flows into the Great Arteries, the Aorta and the Pulmonary Artery. The left ventricle pumps blood rich in oxygen through the Aorta to the body and brain, while the right ventricle pumps oxygenpoor blood out through the Pulmonary Artery to the lungs. The Aorta runs upward toward the head then turns downward toward the body, to form the Aortic Arch. The part of the aorta below the arch is called the Descending Aorta, it supplies the lower body and legs. In most people, three blood vessels branch out of the aortic arch to supply the head and brain and the arms with oxygen-rich blood. In Interrupted Aortic Arch (IAA), the aorta is divided somewhere along the arch into separate blood vessels. Three variations of this problem exist, according to the place of the interruption. (Kindly see the figure, below.) The upper portion of the aorta still supplies the head and arms, but the flow to the lower body and legs is supplied by blood flowing from the pulmonary artery through a special fetal vessel and then into the Descending Aorta. Many fetuses with IAA also have another heart defect, called a ventricular septal defect or VSD. The right and left ventricles of the heart are separated by a wall of muscle called the ventricular septum; a hole in this wall is called a VSD. VSD’s are quite common, in fact they are the most common form of heart defect at birth. A VSD allows blood to cross between the two ventricles of the heart, causing oxygen-rich blood to mix with the oxygen-poor blood that is pumped by the right ventricle to the lungs. Other congenital heart defects, as well as other malformations, may also occur together with IAA.
How does an IAA happen?
During the embryonic period (the first weeks of life in the womb), as the complex anatomy of the heart and blood vessels is developing, IAA seems to occur from a failure of earlier small arches to grow and merge properly. There seems to be a genetic component to IAA in some cases. The most common is DiGeorge syndrome, which is caused by a deletion of a small portion of the chromosome number 22, one of the 23 pairs of chromosomes that store our genetic information. In many cases, however, no genetic cause is found.
Should I have more tests done?
Your caregiver may refer you for genetic counseling and genetic testing. This can provide essential information regarding your individual case. In addition, your caregiver may refer you to specialists in fetal heart problems, such as a maternal-fetal medicine specialist and/or a pediatric cardiologist. They can monitor your baby’s progress with ultrasound scans focused on the fetal heart and the blood vessels surrounding it. Those specialized ultrasounds are called fetal echocardiography. You may also meet with specialists in pediatric heart surgery before delivery, to consult with you regarding the best way to manage your baby’s birth and care in the newborn nursery. Each baby with IAA is unique. Your caregivers will thoroughly examine your baby’s heart and other organs to get the most complete picture of his/her anatomy, and to consult with you to work out a care plan that best suits your individual case.
What are the things to watch for during the pregnancy?
Your caregiver will probably order serial ultrasound scans, to watch carefully to assess whether the IAA is affecting your baby’s growth and well-being. You may be asked to monitor your baby’s movements throughout the day. Your caregivers will advise you as the pregnancy progresses.
What does it mean for my baby after it is born?
While inside the womb, your baby has a small vessel with a long name, the ductus arteriosus, that allows blood flow from the pulmonary artery to be directed to the descending aorta so the lower part of the body can receive blood. After delivery, the ductus arteriosus normally closes within a few days and all the blood from the pulmonary artery flows to the lungs, to be supplied with oxygen and returned to the heart. In IAA, it is important to keep the ductus arteriosus open, to maintain a supply of blood to the portion of the aorta that brings blood to the lower part of the body. Your baby will be given a medication called prostaglandins to keep this vessel open until heart surgery can be performed. IAA always needs to be repaired by heart surgery. The goal of surgery is to create a connection between the two segments of the aorta and to close the hole in the heart (the VSD), if present.
Will it happen again?
This depends whether or not a genetic cause was found to explain the IAA, and what other problems were present. All these factors affect the likelihood of having another baby with IAA. Your caregiver will likely order early targeted fetal scanning to rule out fetal heart defects in future pregnancies.
What is a Tetralogy of Fallot?
Tetralogy of Fallot is a type of congenital heart defect. It gets its name from the fact that it is comprised of four (tetra- from the Greek word for four) anatomical defects in the heart occurring together. It was described by the French physician Étienne-Louis Arthur Fallot, after whom it is named. The four parts of tetralogy of Fallot (TOF) are: Pulmonary Stenosis, Ventricular Septal Defect (VSD), Overriding Aorta, and Right Ventricle Hypertrophy. It occurs in about 1 in 2000 births.
The heart is made up of four chambers, two upper atria (right atrium and left atrium) and two lower, the right and left ventricle. The ventricles pump blood outward through two Great Vessels, the pulmonary artery from the right ventricle and the aorta from the left. This blood flow is modulated by two valves: the pulmonary valve and the aortic valve. In pulmonary stenosis, the pulmonary valve or the tissue just before it does not develop properly, such that blood cannot flow freely when the right ventricle contracts to pump blood toward the lungs. The opening is narrow and the valve leaflets may be thickened and stiff. The nature and degree of narrowing is highly variable, affecting how much blood is pumped to the lungs.
The right and left ventricles are separated by a septum, a wall of muscle. A ventricular septal defect (VSD) is a hole in this wall. VSD’s are quite common, in fact they are the most common heart defect. In TOF, the aortic valve straddles (“overrides”) the VSD, allowing blood from both the right and left ventricles to flow outward through the “overriding aorta”. The degree of straddling, or how much of the VSD is covered by the aortic valve, varies among individuals with TOF. Right ventricle hypertrophy is thickening of the muscles of the right ventricle. This appears to develop as a response of the heart to the effects of the other defects, since it tends to progress over time.
How does a tetralogy of Fallot happen?
There may be a genetic component in TOF. It may be associated with chromosome 22 deletions and DiGeorge syndrome or with Trisomy 21 (Down syndrome). In many cases, the cause is not known.
How are chromosomes relevant to a TOF?
Chromosomes are where most of our genetic information is kept. We usually have 46 of them matched in pairs: 23 come from one parent and the other 23 come from the other parent. For example, people with Down syndrome have an extra chromosome number 21. People with DiGeorge syndrome have a change in the information in one of the chromosome numbers 22. Both of those conditions are seen in babies with a TOF: if such a change in information within the chromosomes occurs, it would be the cause for the TOF.
Should I have more tests done?
Your caregiver may refer you to genetic counselling and genetic testing or discuss this with you. This can provide information on the chromosomes and can provide crucial information about your baby, beyond his/her anatomy. If not already performed, a fetal echocardiography, a special ultrasound focusing on the heart of the baby, should be done to better understand the anatomy and function of the heart. A specialist such as a maternal-fetal medicine specialist or paediatric cardiologist usually performs fetal echocardiography. This can provide images of your baby’s heart and blood vessels and inform your caregivers how well the cardiovascular system is working.
What are the things to watch for during the pregnancy?
Your caregiver will probably order serial ultrasound scans, to monitor your baby’s growth and well-being, and to watch for any signs of distress. You may be asked to track your baby’s movements throughout the day: your caregiver will advise you as the pregnancy progresses.
What does it mean for my baby after it is born?
TOF can be repaired by open heart surgery. Success rates of these repair procedures have increased dramatically since their introduction in the 1950’s and are now around 95%. Many individuals born with TOF have undergone surgical repair and grown to adulthood; many now have children of their own. Every fetus born with TOF is unique. The timing of repair will depend on your individual child’s case, particularly on if oxygen poor blood is being carried from the lungs to the rest of the body. Also, the degree of stenosis, or narrowing, of the pulmonary outflow tract from the right ventricle to the lungs will affect how much blood is delivered to the lungs to receive oxygen. This can impact the baby’s symptoms after delivery. The goal of surgery is to close the VSD so that only oxygenated blood from the left ventricle is pumped through the aorta to the body and brain and to widen the pulmonary outflow tract so blood flows freely from the right ventricle to the pulmonary artery and from there to the lungs. Your baby’s blood oxygen levels will be monitored and he/she will likely have additional ultrasound scanning and other imaging tests, such as chest X-ray, as required after delivery. The team of paediatric cardiologists and paediatric cardiothoracic surgeons will study your baby’s anatomy to devise the optimal management and surgical plan.
Will it happen again?
It appears there is a genetic component in TOF and that siblings of an affected child are at a higher risk than the general population. If a genetic cause is found, the risk of this happening again will be dependent on the kind of genetic problem. Some genetic problems have a rarer chance of recurring whereas others can have a 1 in 2 chance of happening again. If there is no genetic cause, the risk of this happening again will be less than 1 in 10. Your caregiver will probably refer you to early fetal ultrasound scanning to rule out congenital heart disease, in your future pregnancies.
Abdomen
What is an Omphalocele?
An omphalocele is a birth problem in which there is opening in the abdominal wall where the umbilical cord or belly button is normally located. Intestines and sometimes other abdominal organs, including the liver, gallbladder, stomach and/or bladder can come through the opening, which produces a mass in the middle of the abdomen. The mass is covered by a membrane, not by skin, and the umbilical cord enters the mass. This problem is called an omphalocele. The word omphalocele comes from the Greek Omphalos (umbilicus) and Cele (cavity). A baby can have an isolated omphalocele, meaning that that is the only problem the baby has, or omphalocele can be one of many problems the baby has. When the omphalocele is not isolated, this increases the likelihood that the baby has a genetic problem which explains why there is more than one problem. Most babies with omphalocele have small or medium sized omphaloceles, but some have very large ones called giant omphaloceles. A giant omphalocele is an omphalocele where the defect after birth is larger than 2 inches or 5 cm and contains a portion of the baby’s liver. An omphalocele is relatively rare, and happens in 3.4 of each 10,000 pregnancies and 1-2 of each 10,000 live births.
How does an Omphalocele happen?
It is not completely clear how an omphalocele happens. Approximately 80% of the babies with an omphalocele will have other problems, most often with their heart, intestines or kidneys. Often when a baby has multiple abnormalities, there is a problem with the number of chromosomes that the baby has, and this explains all of the baby’s problems. Some babies with an omphalocele will have a change in the number of chromosomes or a change in the information within the chromosomes themselves. Chromosomes are where most of our genetic information is kept. We usually have 46 of them. 23 come from one parent and the other 23 come from the other parent. Sometimes, a baby has too many or too few chromosomes. As an example, people with Down Syndrome have an extra chromosome number 21. People with trisomy 13 or 18 have an extra chromosome number 13 or 18. Trisomy 18 and 13 are commonly seen in babies with an omphalocele and other abnormalities.
Some babies will have multiple problems as part of a syndrome. The most common syndrome in babies with an omphalocele is called Beckwith Wiedemann syndrome. Babies with Beckwith-Wiedemann syndrome are typically large and have extra amniotic fluid (a condition known as polyhydramnios), and may have large livers, kidneys and tongues at birth. Sometimes, these abnormalities only become obvious later in pregnancy. The care of patients with this syndrome after birth includes surgical correction of the omphalocele and monitoring of low blood sugar in the neonatal period and screening for cancer during childhood.
Should I have more tests done?
Many women will choose to have more tests done to know more about the condition of the baby. The tests available depend on where you live. Tests to ask about include a CVS (chorionic villus sampling) which involve removing and testing a small sample of cells from the placenta, or an amniocentesis (where a thin needle is used to take some of the fluid from the womb) to look for problems with the number of chromosomes and some of the problems within the chromosomes, which can be found in BeckwithWiedemann syndrome. You should also ask for an advanced fetal ultrasound scan to look for other organ abnormalities, with special attention for the heart, intestines and kidneys of the fetus. What you should know, what you should ask.
What are the things to watch for during the pregnancy?
Extra ultrasound examinations to check to see if the baby is growing well and to check the amount of amniotic fluid are typically recommended. Evaluation of the size of the liver kidneys and tongue are typically recommended to screen for Beckwith-Wiedemann syndrome. If a really good ultrasound of the fetal heart cannot be done when the omphalocele is found, sometimes a special ultrasound of the baby’s heart, called a fetal echocardiogram is recommended. These scans can help you and your doctor to make decisions about where you should delivery so that the baby receives the best care possible after birth. Most babies with an omphalocele can safely deliver vaginally and do not need caesarean section just because they have an omphalocele.
What does it mean for my baby after it is born?
After birth the baby will be admitted to a special nursery. The paediatric doctors will make sure that the baby does not have breathing problems and will determine the best way for the baby to feed. If a chromosome or other genetic problem is suspected, a Genetics doctor will see and evaluate the baby and talk with you about further management. Additional tests, including a special heart ultrasound may be done. Unfortunately, in up to 1 of every three babies with omphalocele, additional problems are found. The surgeon will decide how best to fix the omphalocele. Sometimes, the abdominal wall can be closed shortly after birth, but in other cases, the omphalocele may be need to be closed slowly over time. This is called a delayed closure.
Babies with a giant omphalocele have an increased risk of underdevelopment of the lungs which can cause short- and long-term breathing problems, feeding problems, long hospital stays and even death.
When children with an omphalocele grow up, most of them develop normally. Babies who have had a giant omphalocele with a delayed closure after birth may show some delays in motor (muscle) development at the age of 2 years compared to babies with a small omphalocele and a primary closure. Follow-up and care by a specialized team which can include a pediatrician, pediatric surgeon, and a physical therapist may be helpful.
Will it happen again?
When no other genetic reason is found to explain the omphalocele, the risk of this happening again is low and estimated to be approximately 1 in a 100. If there is a genetic abnormality, then the risk depends on the type of genetic abnormality. Consultation with a Genetics doctor may be helpful.
What is echogenic bowel of the fetus?
Echogenic bowel is an ultrasound finding where the fetal intestines appear brighter than expected. This finding can be seen in 0.2 -1.4% of all pregnancies.
How is echogenic bowel detected?
Echogenic bowel can be detected by prenatal ultrasound, usually around 20 weeks of pregnancy at the time of the anatomy ultrasound. Typically, the bowel should be the same grey colour as the liver, but sometimes the bowel appears as white as bone. When this occurs, it is called “echogenic”.
What causes echogenic bowel?
Echogenic bowel can be a normal finding on ultrasound and it is often associated with normal, healthy babies. However, there are several medical problems that can cause the bowel to appear bright on ultrasound.
Abnormal bowel movement:
Before the end of the first trimester, the fetus starts swallowing amniotic fluid, which is moved through the fetal gut by muscles in the intestines. Sometimes this fluid moves slower than usual or not at all if there is a blockage in the intestines. When this happens, the bowel content becomes thickened, giving it a bright appearance. In cases of bowel obstruction, the initial presentation may be echogenic bowel and only over time does the bowel obstruction become obvious when peristalsis and dilated loops of bowel are seen. This requires follow scanning. The diagnosis of bowel obstruction may definitively be made only in the third trimester.
Bleeding into the amniotic fluid:
Sometimes bleeding occurs during pregnancy. This can lead to blood in the fluid surrounding your baby. While it is not harmful for the baby to swallow blood in the amniotic fluid, the blood cells can appear bright within the stomach and bowel on ultrasound.
Cystic fibrosis
Cystic fibrosis is a genetic disease that can affect the lungs and bowels, causing thickened mucus to build up in those organ systems. It can be difficult for the baby to have the first bowel movement after he or she is born, also known as meconium ileus. In order for a baby to have cystic fibrosis, it must have two copies of the abnormal cystic fibrosis gene. One abnormal gene copy is inherited from each parent, who are carriers for the disease (meaning they are healthy but have one normal gene and one abnormal gene).
Chromosomal abnormality
An abnormal number of chromosomes will change the genetic makeup of the baby, and many organ systems, including the bowel, can be affected. An example is Trisomy 21, also known as Down syndrome, where the baby has three (instead of two) copies of chromosome 21. There are often other ultrasound findings in addition to echogenic bowel when there is a chromosomal condition.
Fetal infection
Infections that can affect the baby’s bowels include cytomegalovirus, toxoplasmosis, and parvovirus B19. Often these infections do not make adults very ill, but they can cause the baby’s bowels to be inflamed and swollen. This can show up as bright areas on ultrasound. Bright spots can also be seen in other places in the baby’s abdomen.
Fetal growth restriction
Sometimes a baby measures smaller than expected. When the cause of a small baby is abnormal blood flow in the placenta, blood flow to the baby’s bowel can be affected. This may cause it to appear bright on ultrasound.
False positive results
Depending on the ultrasound machine and the sonographer (person performing the ultrasound), echogenic bowel can sometimes appear brighter than it really is.
Should I have more tests done?
You will be offered additional testing to help determine the reason for the echogenic bowel. The exact testing offered will be based on the presence or absence of other ultrasound findings, your medical and pregnancy history, and results from any earlier testing you may have had. You may also be offered consultation with a Genetic Counsellor, a medical professional with special training in genetic conditions.
Tests that may be offered include:
- A detailed ultrasound examination: This is to carefully look at your baby for any other ultrasound findings or abnormalities. Ultrasound can identify many but not all abnormalities.
- Amniocentesis: This is a test that removes a small amount of fluid from around the baby by a thin needle. The fluid can be tested for chromosomal abnormalities as well as fetal infections. Other genetic tests may be offered, such as Chromosomal Microarray (CMA, or “chip”) which looks more closely at the genetic make-up of the fetus.
- Cell-free fetal DNA: This is a maternal blood test that uses your baby’s cells that are in your bloodstream. It is a very good genetic screening test for certain conditions, such as Down syndrome, but it is not as accurate as an amniocentesis.
- Maternal blood tests for infection such as cytomegalovirus or toxoplasmosis: These tests may determine if you have had a recent or past infection, but they will not tell you if your baby has been infected. If your results show possible infection, additional testing may be recommended to confirm an infection in your baby.
- Maternal blood test for cystic fibrosis: Because cystic fibrosis is a genetic condition, you only need to be tested for it once. Your results will never change. It may have already been done as part of your normal pregnancy laboratory testing.
What if all my test results are normal?
If all your tests are normal, your baby will likely be healthy at birth. However, it is important to remember that not all problems can be detected during pregnancy. Therefore, while normal testing is reassuring, it cannot guarantee that your baby will be healthy. Often echogenic bowel goes away over time. Even if this happens, your doctor may recommend follow-up ultrasounds to look at your baby’s growth pattern and to reassess the bowel.
What is anal atresia?
Anal atresia is a congenital abnormality in which there is no opening at the end of the digestive tract, where the anus normally is. It is part of a wider spectrum of abnormalities involving the anus and last part of the bowel, the rectum. Anorectal malformations (ARMs) can range from mild abnormalities with only a thin membrane covering the anus to more severe abnormalities with the rectum ending high up in the belly. The rectum may be connected to the skin or other parts of the body, such as the bladder or the vagina, through a channel, called a fistula.
How does anal atresia happen?
Anal atresia is rare and happens in about 1 in 1,500 to 5,000 live born babies. It is not completely clear how it happens. Approximately half of the babies with an anal atresia will have other problems, most often with their urinary or genital organs, the bones that make up the spine, or heart. Some babies will have multiple problems and have a condition called VACTERL association. This means they have at least three of the following: vertebral abnormalities (the bones of the spine), anal atresia, heart problems, tracheoesophageal fistula (a connection between the windpipe and the feeding tube), kidney or bladder problems and limb abnormalities. These children usually have a normal development and intelligence.
Some babies will have a change in the number of chromosomes or a change in the information within the chromosomes themselves. Chromosomes are where most of our genetic information is kept. We usually have 46 of them. 23 come from one parent and the other 23 come from the other parent. They are matched in pairs. As an example, people with Down Syndrome have an extra chromosome, number 21. People with Townes-Brocks syndrome have a change in the information in one of the chromosome number 16. Both of those conditions are seen in babies with anal atresia.
Should I have more tests done?
Many women will choose to have more tests done to know more about the condition of the baby. The tests available depend on where you are. Tests to ask about include an amniocentesis to look for problems with the number of chromosomes and some of the problems within the chromosomes. You should also ask if a fetal echocardiography, a specialised ultrasound of the heart of the baby during the pregnancy, can be done.
What are the things to watch for during the pregnancy?
If a baby with anal atresia also has a tracheoesophageal fistula women will accumulate extra amniotic fluid or water around the baby. This condition is called polyhydramnios. It can stretch the uterus too much and cause early labour well before the due date. Knowing this in advance, your doctor or midwife can help with decreasing the risk of an early birth.
What does it mean for my baby after it is born?
Anal Artesia Patient Information Series – What you should know, what you should ask. When a baby is born with an imperforate anus, there will be no passage of stool. If there is a fistula, stool will pass through another opening. The doctor will examine the baby to make the diagnosis and determine the severity of the abnormality. Sometimes an ultrasound or X-ray of the belly will be made.
Tests to check for problems with the spine, heart and kidneys will be done. Babies with an anorectal malformation, i.e., cases where anus or rectum has not developed properly, need surgery. The type and number of surgeries depends on the type of abnormality your baby has. If the anus is covered by a thin membrane, this is less complex than when the rectum ends higher and connects with the bladder or other structures. The final goal of the surgery is to create an anus in the normal location, repair connections between the rectum and other structures and connect the rectum to the new anus. If the baby needs to grow a bit more before a complex surgery can be performed, a temporary colostomy can be necessary. This is a surgery in which the large intestine is cut and each site of the intestine is diverted through an incision in the abdominal wall. From one opening, stool passes to a pouch that is attached on the outside of the belly, while the other opening lets out normal mucus that is produced by the intestine.
The baby will have to stay in the hospital after surgery. The duration depends on the complexity of the surgery. To prevent the new anus from getting too narrow as it heals, anorectal dilation has to be performed for several weeks. A very small rod-like dilator is used for this purpose and you should be taught how to use this at home.
Babies who also have a problem within the chromosomes may have even more problems after being born. The prognosis and treatment depend on the type of problem that the baby has.
When they grow up, some children develop good bowel control, but the majority will have some bowel problems, such as constipation or fecal incontinence. Follow-up and care by a specialised team, including urologists, gynecologists and gastroenterologists is therefore advised.
Will it happen again?
When no other genetic reason is found to explain the anal atresia, the risk of this happening again is estimated to be approximately 1 in a 100. If there is a genetic reason, then the risk depends on the reason and a consultation with a specialist may be helpful to help sorting this out.
Gastroschisis is a birth defect where your baby’s intestines (stomach, large or small intestines) exit their body from a 2 to 5-centimeter hole beside their belly button during fetal development. This condition happens early during pregnancy when your baby’s abdominal wall doesn’t form correctly, leaving an opening for their organs to escape. Your baby’s organs float in amniotic fluid inside of your uterus, which causes irritation and swelling. Surgery is necessary to replace your baby’s organs inside their body.
Who does gastroschisis affect?
The cause of gastroschisis is unknown, so there is a risk that it could happen to anyone during pregnancy. Studies by the Centres for Disease Control and Prevention note that gastroschisis might be more common in younger people who become pregnant and those who use tobacco, alcohol or other drugs during pregnancy.
How is gastroschisis diagnosed?
A gastroschisis diagnosis occurs either during pregnancy or once your baby is born. Diagnosis usually occurs between 18 and 20 weeks of pregnancy with routine prenatal tests that check for birth defects in your baby. These tests include:
- Ultrasound: An imaging test using sound waves to see details of soft tissues inside your body. Paraumbilical abdominal wall defect, usually to the right side, with associated evisceration of bowel, floating freely in the amniotic fluid with a normally inserted umbilical cord.
- Blood screening: A blood test that measures substances in your blood, including alpha-fetoprotein, which, if tested at higher-than-normal levels between 18 and 22 weeks, could be a sign of gastroschisis.
How is gastroschisis treated?
Although a gastroschisis diagnosis can happen during pregnancy, treatment can’t start until after your baby is born.
Surgery is necessary to place your baby’s organs back inside their body. Surgery also repairs the hole near their belly button to prevent their organs from returning back outside of their body.
Depending on the severity of the condition and how many organs are outside of your baby’s body, there are two types of surgery to relocate your baby’s organs and repair their abdominal wall:
Primary repair: If possible, your baby will receive surgery immediately after they are born to move the organs back into their body and repair the hole in their abdomen.
Staged repair: If the gastroschisis is more complicated, your baby’s surgeon will perform surgery slowly in stages. A staged repair could be most effective if your baby isn’t healthy enough for surgery, or if their abdomen isn’t big enough to hold all of their organs.
From the time your baby is born to the time of their surgery to repair gastroschisis, your baby’s surgeon will place their exposed organs in a plastic pouch called a silo to prevent infection, dehydration and damage.
After the initial surgery to replace your baby’s organs, additional surgery to repair your baby’s abdomen muscles or intestines may be necessary.
What are the side effects of gastroschisis?
Babies born with gastroschisis may face some health issues in their lifetime including:
Premature birth: Babies with gastroschisis can be born prematurely.
Intestinal blockage: After surgery, your baby may have narrowing of the intestines that could prevent food and stool from moving through their intestines.
Short bowel syndrome: In rare cases, some babies are missing parts of their intestines, which may prevent your baby from absorbing nutrients from food.
How can I reduce my risk of having a baby with gastroschisis?
You can reduce your risk of having a baby with gastroschisis by:
- Not smoking or using tobacco products.
- Don’t drink alcohol during pregnancy.
- Don’t take opioids (prescription painkillers) during pregnancy.
- Eating a nutritional, well-balanced diet.
Renal System
What is a Bilateral Renal Agenesis?
Bilateral Renal Agenesis is the absence of both kidneys in a baby. It occurs in 1 or 2 out of 10 000 babies. With a very few exceptions, it is not considered compatible with life after birth. It is suspected on ultrasound when the person doing the ultrasound cannot see kidneys, or can only see a small amount of tissue where the kidneys should be. When the scan is performed after 18 weeks, they will usually be a lack of water around the baby (amniotic fluid) and the bladder of the baby may not be seen or appear very small. The lack of amniotic fluid is called Oligohydramnios. This lack can causes malformation in the baby due to lack of space. The most frequent malformations are lungs that are too small and joints that are too stiff.
How does a Bilateral Renal Agenesis happen?
Why kidneys do not develop in some fetuses is unknown. Most cases happen only by chance. However, some cases are caused by genetic diseases. These are problems in the genes (which are in each of our body’s living cells), which are passed on by the parents or happen for the first time in the baby. Occasionally, the renal agenesis is part of a syndrome, a more complex type of genetic disease where many parts of the baby are affected. These children also have other problems, such as with the gut, the brain, the heart, the muscles, the bones, or other parts of the urinary system. These may be caused by genetic changes or the cause may still be unknown.
Should I have more tests done?
If your doctor thinks your baby has a problem that is caused by genetic change, you may be referred for genetic testing and counselling. Genetic testing usually involves getting a sample of fluid or blood, which can be checked for a specific gene. Genetic counselling is a service that can give you information and guidance about conditions caused by genetic cause for the problems seen. In addition, your doctor may refer you to specialists. You may need more ultrasound scans during the pregnancy to help find out whether it is bilateral renal agenesis. Some women will be offered an amnioinfusion (an injection of fluid around the baby) to improve the visualisation. Others will be offered a MRI (a different way to get images of the baby) to confirm the diagnosis, if the images on ultrasound are not clear.
What are the things to watch for during the pregnancy?
The inability to see the kidneys and the bladder, associated with lack of fluid around the baby after the 16th week of pregnancy should prompt further investigation for bilateral renal agenesis. A thorough examination by a specialist is usually recommended. You should receive counselling from a specialist to best plan the rest of your pregnancy, if the problem is confirmed.
What does it mean for my baby after it is born?
Babies missing both kidneys cannot survive, even with dialysis or kidney transplant due to the associated lack of lung development. No treatment has yet been shown effective to treat this condition: one-third of babies will die during the pregnancy, and the others die soon after birth. In such situations, some people decide to terminate (stop) a pregnancy. This is a very personal decision. A healthcare professional will speak with you and support whatever decision you make.
Will it happen again?
It is unlikely that a future baby will have bilateral renal agenesis. There is a higher risk of having a child with another kind of kidney problem. This risk is estimated at around 10%. If a genetic cause was found to explain the condition, the risk might be much higher. Your doctor will be able to give you more information about this.
What is a Unilateral Renal Agenesis (URA)?
Unilateral renal agenesis (URA) is the complete absence of the kidney on one side, with compensatory hypertrophy (overgrowth) on the contralateral (opposite) side. One to two out of every 1000 births have URA. The diagnosis is often made at the time of the 18–23-week antenatal ultrasound scan, done to examine the fetal growth. Unilateral renal agenesis may be suspected if one of the kidneys cannot be seen. Babies born with URA can show signs and symptoms at birth, in childhood, or, in some cases, only show the symptoms later in life. Symptoms can include: high blood pressure, poorly working kidney, urine with protein or blood, swelling in the face, hands, or legs. Babies born with URA may also have associated genital anomalies.
How does a Unilateral Renal Agenesis (URA) happen?
The cause of URA is currently not known. Most cases are not inherited from mother or father. However, some cases are caused by genetic mutations. These are problems in the genes (which are in each of our body’s living cells), which are passed on by the parents. Occasionally, the renal agenesis is part of a syndrome, which is a collection of symptoms and signs. These children may also have other problems, such as with the digestive system, nervous system, heart and blood vessels, muscles and skeleton, or other parts of the urinary system. These may be caused by genetic mutations.
Should I have more tests done?
If your doctor thinks your baby has a problem that is caused by genetic mutations, you may be referred for genetic testing and counselling. Genetic testing usually involves getting a sample of body tissue, which can be checked for a specific gene. Genetic counselling is a service that can give you information and guidance about conditions caused by genetic mutations. In addition, your obstetrician may refer you to a pediatrician, or a paediatric nephrologist, a doctor who treats babies, children and young people with kidney problems.
What are the things to watch for during the pregnancy?
Since contralateral (on the opposite side to which the conditions occur) renal abnormalities are common in fetuses with unilateral agenesis, you may need more ultrasound scans during the pregnancy to look at the shape and size of the fetus’s remaining kidney and other parts of the urinary system, the amount of amniotic fluid (or liquor), and the growth of the baby.
What does it mean for my baby after it is born?
Many children URA will not have long-term problems. The other kidney usually grows larger to help do the work of two kidneys. A small number of children may be at higher risk of problems later in life. These include vesicoureteric reflux (a condition in which urine flows backward from the bladder into the ureters and sometimes to the kidneys), hypertension (high blood pressure) and proteinuria (protein in the urine). Your baby will need a follow-up renal scan in the neonatal period to exclude any abnormality of the contralateral kidney. The baby should be able to do all the things other children their age do. He or she can go to nursery and school, play with other children and stay active.
Will it happen again?
Unless your baby’s renal agenesis was caused by a genetic mutation, it is unlikely that a unilateral renal agenesis will recur in a subsequent pregnancy.
Ultrasound diagnosis:
Fusion of the lower poles of both kidneys in front of the descending aorta.
Horseshoe kidney is best demonstrated on the coronal and transverse scans when renal tissue will be seen crossing the midline. More common in male fetuses. Normal bladder and amniotic fluid volume.
Associated abnormalities:
- Chromosomal abnormalities: horseshoe kidney is found in 30% of cases of Turner syndrome and in 20% of trisomy 18.
- Associated syndromes are found in 15% of cases. The most common is Caudal regression syndrome (sporadic; sacral agenesis or hypoplasia, hypoplastic vertebral bodies, anal atresia).
- Other defects include hydronephrosis, and genital anomalies.
- Extra-renal defects, mainly CNS, cardiac or skeletal, are found in 30% of cases.
Prognosis:
In isolated forms, the prognosis is good. Postnatal follow-up is advised because of significant risk of infections, hydronephrosis and nephrolithiasis (70%).
Recurrence:
Isolated or part of Turner syndrome: no increased risk.
Part of trisomy 18: 1%.
Ultrasound diagnosis:
- Dilatation of the collecting system of the kidney. Ureters and bladder are normal.
- On the basis of the anteroposterior diameter of the pelvis the condition is divided into:
- Mild (only renal pelvis): 4-7 mm in the 2nd trimester; 7-9 mm in the 3rd.
- Moderate (pelvis and calyces): 8-10 mm in the 2nd trimester; 10-15 mm in the 3rd.
- Severe (cortical thinning): >10 mm in the 2nd trimester; >15 mm in the 3rd.
Associated abnormalities:
- Chromosomal defects: low risk in isolated forms.
- Abnormalities of the contralateral kidney: multicystic kidney, ectopia, renal agenesis.
- Associated syndromes are found in 5% of cases.
Prognosis:
- In the majority of cases, the condition remains stable or resolves in the neonatal period. In about 20% of cases, there may be an underlying ureteropelvic junction obstruction or vesicoureteric reflux that requires postnatal follow-up and possible surgery. Moderate hydronephrosis is usually progressive and in more than 50% of cases surgery is necessary during the first 2 years of life.
What is a fetal megacystis?
Fetal megacystis refers to an unusually large urinary bladder seen on ultrasound. This occurs in the antenatal period in about 1 in 1500 pregnancies, much more frequently in boys than in girls. In a first trimester scan (11-14 weeks), megacystis is diagnosed if the longitudinal bladder diameter is more than 7 mm. During fetal life, the fetal kidneys produce urine, which is passed to the bladder through tubes called ureters. The urine is stored in the bladder until it is released through another tube called the urethra, which carries the urine out of the body. In most cases, megacystis results when some condition prevents normal passing of urine.
How does a fetal megacystis happen?
Megacystis is most often caused by obstructive conditions that block the urethra, such as posterior urethral valves, or malformation to the urethra such as stenosis (narrowing or stiffening) or atresia (failure to develop); or persistent cloaca (a complex anatomic developmental malformation). In other cases, megacystis is caused by neurologic and/or genetic disorders (i.e., megacystis microcolon intestinal hypoperistalsis syndrome) that prevent the bladder normally passing urine.
When megacystis is seen on fetal ultrasound, it raises suspicion that there may be obstruction (blockage) or constriction (narrowing) of the urethra, which is preventing the urine from leaving the bladder. This is the cause in just over half of cases. Over time, this can lead to there being too little amniotic fluid, or oligohydramnios. The back-up of urine in the bladder can also damage the ureters and kidneys. The amniotic fluid that surrounds and cushions the fetus in the womb is made up largely of fetal urine. As the fetus grows, he/she draws the fluid into the lungs to help them develop. The cushioning effect of the fluid around the baby lets his/her muscles and bones develop properly.
In cases of complete obstruction, the inability of urine to be released into the amniotic fluid space around the fetus causes the bladder to enlarge and the amniotic fluid levels to decrease (oligohydramnios), which can result in underdevelopment of the lungs (pulmonary hypoplasia), a life-threatening condition.
There is also a risk of an associated chromosomal abnormalities or specific genetic defects. The prognosis depends upon the underlying cause and severity of the obstruction as well as the presence or absence of other findings.
What is a fetal megacystis?
Fetal megacystis refers to an unusually large urinary bladder seen on ultrasound. This occurs in the antenatal period in about 1 in 1500 pregnancies, much more frequently in boys than in girls. In a first trimester scan (11-14 weeks), megacystis is diagnosed if the longitudinal bladder diameter is more than 7 mm. During fetal life, the fetal kidneys produce urine, which is passed to the bladder through tubes called ureters. The urine is stored in the bladder until it is released through another tube called the urethra, which carries the urine out of the body. In most cases, megacystis results when some condition prevents normal passing of urine.
How does a fetal megacystis happen?
Megacystis is most often caused by obstructive conditions that block the urethra, such as posterior urethral valves, or malformation to the urethra such as stenosis (narrowing or stiffening) or atresia (failure to develop); or persistent cloaca (a complex anatomic developmental malformation). In other cases, megacystis is caused by neurologic and/or genetic disorders (i.e., megacystis microcolon intestinal hypoperistalsis syndrome) that prevent the bladder normally passing urine.
When megacystis is seen on fetal ultrasound, it raises suspicion that there may be obstruction (blockage) or constriction (narrowing) of the urethra, which is preventing the urine from leaving the bladder. This is the cause in just over half of cases. Over time, this can lead to there being too little amniotic fluid, or oligohydramnios. The back-up of urine in the bladder can also damage the ureters and kidneys. The amniotic fluid that surrounds and cushions the fetus in the womb is made up largely of fetal urine. As the fetus grows, he/she draws the fluid into the lungs to help them develop. The cushioning effect of the fluid around the baby lets his/her muscles and bones develop properly.
In cases of complete obstruction, the inability of urine to be released into the amniotic fluid space around the fetus causes the bladder to enlarge and the amniotic fluid levels to decrease (oligohydramnios), which can result in underdevelopment of the lungs (pulmonary hypoplasia), a life-threatening condition.
There is also a risk of an associated chromosomal abnormalities or specific genetic defects. The prognosis depends upon the underlying cause and severity of the obstruction as well as the presence or absence of other findings.
Should I have more tests done?
If your doctor thinks your baby has a problem that is caused by chromosomal or specific genetic defects, you may be referred for genetic testing and counselling. Your doctor will take a sample of cells from the placenta (placenta biopsy, CVS) in the first trimester or a sample of cells from the amniotic fluid (amniocensis) in the second trimester, to get body tissue, which can be checked for a chromosomal abnormalities or specific genetic defects.
In addition, your doctor may refer you to specialists. You may need more ultrasound scans during the pregnancy.
What are the things to watch for during the pregnancy?
The megacystis detected early can spontaneously resolve or progress over the course of pregnancy. Your caregiver will probably order serial ultrasound scans, to watch carefully to assess whether the megacystis is affecting your baby’s growth and well-being. Your caregivers will advise you as the pregnancy progresses.
What does it mean for my baby before it is born?
Management will depend on the underlying cause of the megacystis. A fetal medicine specialist will discuss with you the optimal management suitable to your baby. If the fetus is chromosomally abnormal, there is severe oligohydramnios, the diagnosis is made early in pregnancy or if there is evidence of renal dysplasia on ultrasound, some people decide to terminate (stop) a pregnancy. This is a very personal decision. A healthcare professional will speak with you and support whatever decision you make. For chromosomally normal fetuses, intrauterine prenatal treatment may be feasible.
What does it mean for my baby after it is born?
After your baby is born, pediatric urologists and nephrologists (kidney specialists) will examine the baby and consult with you to work out the optimal management suitable to your baby. After thorough evaluation of your child’s condition, the team will counsel your family on what to expect in both the short- and long-term.
Postnatal treatment options depend on the type of obstruction. Children with megacystis are more susceptible to kidney infections and kidney failure. Some may eventually require kidney transplant. Some may also experience long-term respiratory symptoms as well as bladder dysfunction, poor growth and musculoskeletal problems. Long-term follow-up is overseen by a pediatric urologist and nephrologist.
Will it happen again?
This depends whether or not a genetic cause was found to explain the megacystis, and what other anatomic findings were present, if any. All these factors affect the likelihood of having another baby with megacystis. Your caregiver will likely order early targeted fetal ultrasound examination to rule out the condition in your subsequent pregnancies.
If your doctor thinks your baby has a problem that is caused by chromosomal or specific genetic defects, you may be referred for genetic testing and counselling. Your doctor will take a sample of cells from the placenta (placenta biopsy, CVS) in the first trimester or a sample of cells from the amniotic fluid (amniocensis) in the second trimester, to get body tissue, which can be checked for a chromosomal abnormalities or specific genetic defects.
In addition, your doctor may refer you to specialists. You may need more ultrasound scans during the pregnancy.
What are the things to watch for during the pregnancy?
The megacystis detected early can spontaneously resolve or progress over the course of pregnancy. Your caregiver will probably order serial ultrasound scans, to watch carefully to assess whether the megacystis is affecting your baby’s growth and well-being. Your caregivers will advise you as the pregnancy progresses.
What does it mean for my baby before it is born?
Management will depend on the underlying cause of the megacystis. A fetal medicine specialist will discuss with you the optimal management suitable to your baby. If the fetus is chromosomally abnormal, there is severe oligohydramnios, the diagnosis is made early in pregnancy or if there is evidence of renal dysplasia on ultrasound, some people decide to terminate (stop) a pregnancy. This is a very personal decision. A healthcare professional will speak with you and support whatever decision you make. For chromosomally normal fetuses, intrauterine prenatal treatment may be feasible.
What does it mean for my baby after it is born?
After your baby is born, pediatric urologists and nephrologists (kidney specialists) will examine the baby and consult with you to work out the optimal management suitable to your baby. After thorough evaluation of your child’s condition, the team will counsel your family on what to expect in both the short- and long-term.
Postnatal treatment options depend on the type of obstruction. Children with megacystis are more susceptible to kidney infections and kidney failure. Some may eventually require kidney transplant. Some may also experience long-term respiratory symptoms as well as bladder dysfunction, poor growth and musculoskeletal problems. Long-term follow-up is overseen by a pediatric urologist and nephrologist.
Will it happen again?
This depends whether or not a genetic cause was found to explain the megacystis, and what other anatomic findings were present, if any. All these factors affect the likelihood of having another baby with megacystis. Your caregiver will likely order early targeted fetal ultrasound examination to rule out the condition in your subsequent pregnancies.
Spine
What is hemivertebra?
Hemivertebra is a congenital (present from birth) anomaly of the spine in which only one half of the vertebral body develops. It occurs in about 3 in 10,000 births. It is a common cause of congenital scoliosis where the spine is curved sideways.
How does hemivertebra happen?
Our spine is usually made up of 33 vertebrae stacked in a column. At about 6 weeks’ gestational age, each vertebra has two areas at its sides where the bone develops and hardens, called lateral ossification centres. A hemivertebra results from the failure of one of these lateral centres to develop, so the vertebra is missing one side. The defective vertebra impacts on the configuration of the spinal column by acting as a wedge in the spine, leading to excessive lateral curvature (scoliosis), or too great a curve away from the side on which it is present.
Should I have more tests done?
Tests to ask about include an amniocentesis to look for problems with the number of chromosomes and some underlying genetic conditions. Amniocentesis is a test where a needle is used to take some of the fluid surrounding the fetus in the womb. Other genetic tests may be offered, such as Chromosomal Microarray (CMA, or “chip”) which looks more closely at the genetic make-up of the fetus, if this is available.
Because Hemivertebra has been described in association with various other anomalies (such as other abnormalities of the bones and muscles, including those of the spine, ribs, and limbs), you should also ask for a detailed ultrasound examination. Hemivertebra is also associated with congenital syndromes including Jarcho-Levin, Klippel-Fiel, Aicardi syndrome, and VACTERL association, so genetic counselling could be of benefit to you.
What does it mean for my baby after it is born?
Left untreated, 25% of patients with congenital scoliosis show no progression, 50% progress slowly, and 25% progress rapidly during growth. The treatment for your baby is orthopaedic surgery (spinal fusion is the treatment of choice). This is usually performed before significant deformity occurs.
Will it happen again?
This is uncertain, and depends whether a genetic cause was determined. There may be an increased risk of neural tube defects in siblings, but the risk would be low.
What is spina bifida?
Spina bifida is a defect of the spine exposing the contents of the spinal cord (the nerves going from the brain to various parts of the body). There are two kinds of spina bifida; an open defect is when there is no skin covering the hole in the spine; a closed defect is, instead, covered completely by the skin.
How does spina bifida happen?
Spina bifida is a failure of closure of the spine during the first month of pregnancy. In most cases of open spina bifida, there is a fluid-filled sac bulging out. It contains deformed nerves and the sac around them called meninges. That sac is called a myelomeningocele. Less frequently, the spine is open in the back and is not covered by meninges; this is called a myelocele.
The cause for the spina bifida is variable with many factors often contributing to the anomaly. A lack of folic acid increases the risk of spina bifida. It is important when you plan to have a baby to increase your intake of folic acid before conception.
A problem with the number of chromosomes (where our genetic make-up is stored) or changes within the chromosomes are more frequent in babies with spina bifida. Other genetic problems can be the reason for the spina bifida. Most often, no explanation is found on why this is happening.
Should I have more tests done?
The two main categories of anomalies associated with spina bifida are anomalies of the brain and foot deformities. In almost all cases of open spina bifida, a typical change in the back of the brain is found (called Arnold-Chiari malformation). Many babies will also have extra fluid inside their brain. The feet will often be in a clubbed position. Some babies will also have other anomalies in their body which can make things more challenging. Because of this, a specialized ultrasound is recommended to thoroughly assess the baby.
As some babies will have anomalies in their chromosomes, testing them with an amniocentesis is often offered. When an amniocentesis is done, a needle is inserted in your abdomen to collect some fluid from around the baby and test it.
In rare cases, the neural tube defect is part of a genetic disease, such as Meckel syndrome, Jarcho-Levin syndrome, and Currarino syndrome. These diseases are more likely if there are other problems detected on the ultrasound. Many women will receive genetic counselling and decide with a specialized doctor if these possibilities should be tested by an amniocentesis.
What does it mean for my baby after it is born?
The outcome is extremely variable, depending where and how much of the spine is affected and on whether or not other anomalies are seen. Although most babies survive, some will not. Those who survive may present problems such as paralysis of limbs, loss of bladder or bowel control, sexual dysfunction and learning disabilities. Severe excessive amount of fluid in the brain, clubfoot and curved spine are associated with more problems after birth. After birth, your baby will need surgery to repair the defect and long-term follow-up to help with the various issues associated with the changes in the spine and the nerves. Many will require multiple surgeries as they grow up.
Will it happen again?
The risk of having another child with spina bifida or similar types of problems is around 2-4%. A higher dose of folic acid vitamin before trying to become pregnant can decrease that risk. Rarely, the risk will be much higher because certain genetic causes were found. A doctor with expertise in genetics can help you assessing your specific risk.
What is a Sacrococcygeal Teratoma (SCT)?
A sacrococcygeal teratoma (SCT) is a tumour arising from the presacral area (located in the lower part of the back). SCT is an extremely rare finding that occurs in about 1 in 40,000 births. The female to male ratio is 4:1. It can be predominantly external with minimal presacral component or predominantly internal with a significant intrapelvic component.
How does a SCT happen?
SCT may arise from the potential cells (embryo cells that have the potential to develop into any kind of cell) of the Hensen’s node (a knot of cells found at the very early stages of development) during embryo development. SCTs can be non-harmful tumours, immature teratomas (tumour), containing different proportion of embryonal tissues, or malignant (very infectious) teratomas. Mature and immature teratomas are frequently cystic, while malignant forms are predominantly solid with extensive blood vessel formation.
Prenatal series only rarely reported associated malformations, with the exception of hydrops (an accumulation of serous fluid in the fetus) and excess amniotic fluid, due to the increased cardiac output to feed the mass. The incidence of associated chromosomal anomalies is very low.
Should I have more tests done?
The tests available depend on where you are. Tests to ask about include an amniocentesis/chorionic villus sampling to look for problems with the number of chromosomes and some of the problems within the chromosomes, even if these are rarely associated with SCT. You should also ask if a fetal echocardiography, a specialised ultrasound of the baby’s heart during the pregnancy, can be offered, in particular in cases with hydrops. If available, MRI can sometimes be performed to provide information on the condition of the baby.
What are the things to watch for during the pregnancy?
Babies with SCT are at risk of some problems during the pregnancy, in particular hydrops and heart failure due to the demand the mass places on the fetal heart. That is why most specialists will recommend regular ultrasound examination. The ultrasound will help to identify if the baby is going into heart failure.
What does it mean for my baby after it is born?
The prognosis is related to three factors: the development of fetal hydrops, whether the teratoma is benign or malignant, and the size of the tumour. Hydrops is most frequently associated with perinatal death due to heart failure. Malignant tumours are almost invariably fatal and have a high probability of metastases, making removal impossible. The size of the tumour does not seem to predict malignancies, but is important as well, because very large lesions are associated with a greater surgical risk. If the mass is predominantly external, cystic and lacking extensive blood vessels, the outcome is better, because the lesion is easier to remove. Babies who also have a problem within the chromosomes may have additional problems after delivery. The prognosis in these cases depends on the type of problem that the baby has.
When the baby is stable, a surgeon will do one or many surgeries to remove the mass. The baby often requires very complex care in a specialized hospital for many weeks after birth.
Will it happen again?
When no other genetic reason is found to explain the SCT, the risk of this happening again is extremely low.
Growth and Doppler
What exactly is polyhydramnios or hydramnios?
Polyhydramnios (hydramnios) means the presence of an excess amount of amniotic fluid in the amniotic sac (or ‘bag of waters’). This is evaluated according to the gestational age of the fetus (meaning how far along the pregnancy is). It is a fairly common condition, affecting about 1-4% of all pregnancies. It occurs during the 2nd and 3rd trimesters of pregnancy and is a condition that is linked with increased perinatal morbidity and mortality. Usually, its diagnosis is incidental during a routine pregnancy scan. Its causes are numerous and can be any one of the following:
- Idiopathic (meaning arising spontaneously or of unknown cause – occurring in one third of all cases)
- Gestational diabetes mellitus
- Anatomic fetal disorders and fetal hydrops
- Genetic fetal disorders (mostly trisomy 21,18 and 13)
- Multiple gestation and twin-twin transfusion syndrome (TTTS)
- Fetal anemia · Rhesus isoimmunisation
- Infections (toxoplasma, CMV, rubella, parvovirus, syphillis)
- Maternal metabolic disorders (such as hypercalcemia)
- Other rare fetal or maternal conditions (such as Bartter syndrome, Dandy Walker syndrome, maternal lithium use)
The likelihood of there being an underlying pathologic condition increases according to the severity of the polyhydramnios. That is to say that while mild polyhydramnios is usually idiopathic, when the polyhydramnios is either moderate or severe, an underlying disease will typically be found.
Fetal malformations associated with polyhydramnios are mainly:
- Central nervous system defects (e.g., anencephaly and neural tube defects)
- Gastrointestinal system defects (e.g., atresia or obstruction)
- Abdominal wall defects
- Cardiovascular system defects (e.g., high cardiac output, tumors)
- Musculo-skeletal system defects (e.g., achondroplasia, dwarfism)
- Urogenital system defects (e.g., tumors)
- Cleft lip and cleft palate
- Trisomy 21, 18 and 13
How can ultrasound help in the diagnosis of polyhydramnios?
Although an ultrasound scan needs subjective assessment by the doctor, it is nevertheless the most important diagnostic test for polyhydramnios. This is because it allows direct evaluation of the volume of amniotic fluid. It also permits measurement of the deepest pocket of amniotic fluid and determination of the amniotic fluid index: in this way, the classification of mild, moderate or severe can be achieved.
In polyhydramnios, during the 2nd trimester the ratio between the amniotic fluid and the baby is greater than 1 to 1, whereas by the 3rd trimester an excessive amount of amniotic fluid is observed between the baby and the uterine walls. Two other important sonographic measurements can be taken for the evaluation of amniotic fluid volume. These are: 1) “deepest pocket” (DP) evaluation, this being a vertical measurement within the largest amniotic fluid pocket, free of the umbilical cord and fetal parts; 2) “amniotic fluid index” (AFI), which is the sum of the deepest vertical measurements within each quadrant (when the uterine cavity is divided into 4 equal segments). A DP greater than 8 cm and an AFI greater than 20 cm are defined as polyhydramnios.
Will I need any other tests?
If polyhydramnios is identified, then the following examinations need to be performed:
- Glucose tolerance test to rule out maternal diabetes mellitus
- Rhesus isoimmunisation test if there is suspicion for fetal anemia and fetal hydrops
- Screening for congenital infections (TORCH viruses)
- Amniocentesis and karyotyping in the event that additional fetal malformations are present
Is there anything else that ultrasound can tell me about polyhydramnios?
Ultrasound, or sonography, examination can also diagnose multiple gestation (i.e., the presence of two or more embryos in the uterus), the chorionicity of the pregnancy (to find out if the embryos share a placenta or have different placentas) and the number of gestational sacs. Ultrasound can also identify any fetal defects associated with polyhydramnios. Finally, it can diagnose a possible pregnancy complication sometimes associated with polyhydramnios, namely intrauterine growth restriction (IUGR, when a fetus is very small for the week of pregnancy), as well as fetal macrosomia (when a fetus is very large for the week of pregnancy) which may result from gestational diabetes.
What does it mean to have polyhydramnios?
Polyhydramnios can result in:
- Preterm labour and premature rupture of the membranes
- Maternal discomfort and dyspnea (difficulty breathing) due to uterine overdistension, i.e. over-expansion.
- Placental abruption and umbilical cord prolapse
- Postpartum hemorrhage
- Fetal malpresentations and increased possibility of caesarean delivery Polyhydramnios.
What is the goal of treatment?
The goal of treatment is both to prevent fetal complications and to relieve maternal symptoms that are brought about by the excessive amount of amniotic fluid. While mild polyhydramnios is normally managed in a conservative manner (i.e., bed rest and monitoring), more severe cases might require intervention to reduce the excess amniotic fluid. You may be given steroid injections after 24 weeks to protect the baby, if the baby is likely to be born premature.
The most common treatment options are:
- Medications: Indomethacin and sulindac are prostaglandin synthetase inhibitors that reduce amniotic fluid volume. This is achieved after approximately a week of therapy.
- Therapeutic amniocentesis (amnioreduction): This means the aspiration of an amount of amniotic fluid using the same procedure as amniocentesis.
Also of great importance is the management of the maternal or fetal causes of polyhydramnios, if the cause is known. One example is the management of blood glucose levels in the case of gestational diabetes. If severe IUGR is identified, and provided that fetal lung maturity is seen to be adequate, labour induction can also be considered.
What is the prognosis of polyhydramnios?
The prognosis of mild idiopathic polyhydramnios is generally excellent. When a cause of polyhydramnios is identified, the prognosis depends much more on that cause, and the degree of severity of polyhydramnios.
Are there things that ultrasound cannot tell me about polyhydramnios?
As mentioned above, the ultrasound scan is a subjective diagnostic tool used for the evaluation of amniotic fluid volume and, therefore, its sensitivity may be affected by a number of factors, including body-mass index, the mother’s use of skin solutions, fetal position in the uterus, as well as the examiner’s experience and ability. This means that amniotic fluid volume could possibly be either overestimated or underestimated. Also, in a few cases, co-existing fetal malformations cannot be identified—which results in a mistaken diagnosis that the existing polyhydramnios does not result from other underlying pathological conditions. This is why routine monitoring is essential, even when polyhydramnios is the only finding. Lastly, ultrasound scan cannot precisely predict the final pregnancy outcome and possible perinatal complications, nor can it determine the clinical outcome of a fetal malformation after the baby’s birth.
Are there any other important tips I should know?
As mentioned, the reliability of the diagnosis depends on the examiner’s experience and ability. Therefore, our recommendation is that sonographic exams be carried out in a prenatal centre staffed by highly trained and experienced sonographers and physicians to avoid any critical oversights, for example of the presence of underlying fetal malformations.
What is oligohydramnios?
Oligohydramnios means that, relative to gestational age (meaning how far along the pregnancy is), the amniotic fluid surrounding the fetus (baby) is at low levels. Amniotic fluid is the water that surrounds the fetus in the uterus. At the start, it contains mostly water with electrolytes. However, with the progression of pregnancy, more molecules (including proteins, carbohydrates, lipids and urea) are contained in it.
What is the importance of amniotic fluid?
Amniotic fluid has a large number of functions whose purpose is the protection and development of the fetus.
- It gives the baby the freedom to move about, thus enabling musculoskeletal (muscle and bone) development.
- It prevents any compression on the umbilical cord: too much pressure could interrupt the supply of nutrition and oxygen from the mother.
- It keeps the baby warm and maintains a constant temperature.
- Amniotic fluid maintains humidity
- When the fetus swallows the amniotic fluid, this helps it to develop its gastrointestinal tract.
- The fetus inhales and exhales the fluid, which stimulates lung development.
- It acts as a barrier against fetal infection of the intra-amniotic environment, while it also offers protection against any blows, for example if the mother falls.
- Finally, since the amniotic fluid contains fetal cells, analysis of it can furnish information on possible genetic defects. This sampling is carried out via the medical procedure called amniocententesis (or amniotic fluid test).
How exactly is amniotic fluid produced?
During the first trimester of pregnancy, the main component of amniotic fluid is fluid supplied by the mother via the placenta (maternal plasma, nutrients and growth factors). In the latter half of pregnancy, the baby is the main producer of amniotic fluid, with fetal urine and fluid excreted from its lungs also contributing to the fluid. As the baby develops, it produces more urine, with the amount of amniotic fluid reaching a peak at about 32-34 weeks of gestation. After 36 weeks of gestation, i.e., near term, the volume declines naturally.
How does ultrasound help with the diagnosis of oligohydramnios?
Via ultrasound, physicians are able to have a reliable estimation of amniotic fluid volume by calculating the amniotic fluid index, or AFI, normally using a four-quadrant technique. This means that the uterus is divided into four imaginary quarters and the measurements taken (vertical length of each fluid pocket) are summed up to a score. This score denotes the amniotic fluid index. Generally speaking, an AFI of less than 5-6 cm it is considered below normal. There is another easily performed and reliable method for amniotic fluid assessment: this is measurement of the deepest vertical pocket (DVP) that one can find in any of the four quadrants, not counting the fetal parts or umbilical cord, measured in centimetres. The normal range for DVP is 2cm-8 cm (for multiple pregnancies it is around the same), with values below 2 cm indicating probable oligohydramnios.
When should I have the scan?
Amniotic fluid does not need to be measured routinely at any scan as a DVP < 2cm or AFI < 5- 6 cm is easily recognisable. Therefore, amniotic fluid has to be measured only if subjectively diminished or for obstetric indication. The best time to carry out amniotic fluid calculations is during the second trimester, between 18 and 22 weeks (fetal anatomy scan), and then during the third trimester (fetal growth scan).
Is there anything else that ultrasound can tell me about oligohydramnios?
Oligihydramnios can be associated to fetal anomalies (mainly from the urine tract) or fetal growth restriction. So, once olygohydramnios is detected, anomalies should be discarded by a detailed scan and the fetal growth assessed. Sonographic measurement of fetal size and estimations of fetal weight gain that are performed together with Doppler scans (fetal circulation assessment) may suggest the presence of oligohydramnios occurring as a manifestation of fetal growth restriction. Amniotic fluid is included in the biophysical profile which is a tool that takes together parameters as fetal movements to evaluate fetal wellbeing.
What can cause this condition?
The most common cause of oligohydramnios is rupture of membranes, but renal dysfunction or urinary tract blockage can also lead to oligohydramnios at any moment. Oligohydramnios is in addition an early indicator of placental dysfunction, which means that the placenta hasn’t developed properly or is damaged (hypoperfusion). Very rarely (less than 1% of cases), the cause may be idiopathic (of unknown cause).
Complications and prognosis of oligohydramnios
Because the amniotic fluid is a baby’s life support system, oligohydramnios is a serious development since all the vital functions and protective actions of amniotic fluid are reduced. There are several complications resulting from oligohydramnios that vary according to its cause and severity and the time of its presentation. The earlier in pregnancy that oligohydramnios occurs, the worse is the prognosis derived from the cause which is explaining the oligohydramnios. Oligohydramnios, when isolated in the third trimester, usually has a good prognosis. Some of the risks associated with oligohydramnios are infectious complications (rupture of membranes), preterm birth (rupture of membranes, fetal growth restriction), malpresentation because of the difficult to move).
What is the treatment for oligohydramnios?
No effective treatment for oligohydramnios is currently available. If it concerns a mild case of oligohydramnios in an otherwise healthy pregnancy near term, no intervention is needed. Particularly in the case of ruptured membranes, management will involve maternal monitoring for signs of infection, antibiotics eventually, sonographic monitoring of the baby and in a few cases hospital admission or steroids. In the event of lower urinary tract obstruction, Fetal surgery should be considered.
Will I require any other tests?
Oligohydramnios may be an indicator of fetal growth restriction. That is, there should be examination of the rate of fetal growth, fetal anatomy (in particular the kidneys and urinary tract) and fetal circulation (Doppler scans).
What is Growth Restriction?
Intrauterine growth restriction means that your baby is not growing at a normal rate—or, rarely, is not growing at all—in the womb, and is therefore smaller than it should be for the gestational age (meaning the age, in weeks, of the fetus). During each antenatal ultrasound examination, measurements are taken of the size of your baby’s head, abdomen and thigh, after which the baby’s weight is calculated and ranked in percentiles for gestational age.
So, if a baby’s weight is found to be below the 10th percentile for its gestational age, the baby is then said to be ‘small for gestational age’ (SGA). Although about 60% of these ‘small for gestational age’ babies are simply physiologically small, which means that there is no problem, the other 40% are babies whose growth is pathologically restricted (pathological SGA, i.e. involving a physical problem). Furthermore, even a baby that is seen to be above the 10th percentile but whose development subsequently slows down as pregnancy proceeds is also said to have fetal growth restriction.
What causes Growth Restriction?
There are many possible causes of growth restriction. Apart from genetic abnormalities of the baby, there are several medical conditions that a woman may have that could contribute to IUGR. For example, maternal age over 40 years, smoking, other substance abuse (alcohol, drugs), severe malnutrition or anemia, advanced diabetes, chronic hypertension, preeclampsia, heavy bleeding during pregnancy, and others. A woman who has had a baby with IUGR in the past is at risk of having another baby with growth restriction.
What risks are there for my baby?
IUGR puts the baby at risk for a number of health problems during pregnancy, at delivery, after delivery and even long-term. For instance, the likelihood of impaired development during pregnancy is higher, while there is also the possibility of the baby dying in the womb. The baby can also be more susceptible to distress and asphyxia during labour, have lower resistance to infection and might, in the long-term, develop diabetes and hypertension. It is highly recommended that IUGR babies be particularly closely followed up both during pregnancy and during labor so that any possible complications can be identified and treated promptly.
What exactly is Doppler ultrasound?
A Doppler ultrasound measures the blood flow in your blood vessels as well as your baby’s. It can also examine the baby’s organs, for example its umbilical cord, brain and liver. In the management of a growth restricted unborn baby, accurate diagnosis is very important in order to optimise the timing of delivery as well as survival of the newborn. This is best carried out via the non-invasive method of Doppler velocimetry. This technique has, in fact, been in use over the last few decades in all branches of medicine, and has become a regular component of fetal surveillance in cases of complicated pregnancies. Assessment by umbilical artery Doppler significantly reduces the likelihood of labour induction, caesarean delivery and perinatal death.
How is a Doppler test done, and how long does it last and will it be painful?
A Doppler ultrasound test can be done simultaneously with an ordinary obstetrical ultrasound. A Doppler function by transmitting sound waves from the probe into the baby’s body—to its internal organs and to its arteries and vessels—to produce images in real time on the screen. A Doppler scan only takes a few minutes. Immediately after the test, you will be told the results by your doctor. The test is pain-free.
What measurement does a Doppler examination take?
The heart function operates in two phases: systole (contraction) and diastole (relaxation). During the systole phase, the heart pumps the blood through the vessels at high speed. In the diastole phase, the heart relaxes its pressure and blood flow and supply is lower in the fetal tissues. A Doppler ultrasound test measures the velocity (speed) and direction of moving red blood cells in the artery or vein that is being scanned.
Doppler sonography calculates the resistance to blood flow, which enables determination of whether the baby’s oxygen supply (oxygenation) is adequate or not. This is achieved by evaluating the Doppler waveform pattern in systole and diastole. Blood flow velocity in the vessels is also assessed. The velocity is important because an abnormal flow is a strong indication of deterioration of the baby’s circulation.
A large number of studies have confirmed the value of Doppler measurements in the management of IUGR, enabling doctors to ensure the healthy prolongation of a pregnancy which, without Doppler monitoring, could result in a preterm birth, a stillbirth or even a baby that can suffer lifelong effects.
Just how important is a Doppler examination for my IUGR baby?
The Doppler exam is very important in the management of IUGR in pregnancy. Firstly, Doppler results will help your doctor decide on pregnancy follow-up and when to schedule your next examination. Secondly, vital organs of the baby can be examined so as to monitor their oxygenation and development rate. For example, thanks to the Doppler scan, doctors and sonographers are able to promptly diagnose a poorly working placenta.
Finally, in the event of a pathological diagnosis, Doppler tests also play a big role with regard to delivery and the baby’s life after birth as well as to choose of clinic. Concerning IUGR pathologies, if for instance there is diagnosis of a fetal syndrome or a congenital anomaly, a Doppler ultrasound will provide the needed information for a better pregnancy outcome. Moreover, Doppler results will also determine if there is the need for selection of a specialized hospital for delivery, since both doctors and parents will be forewarned as to the possibility of a challenging after-birth condition requiring specialist care: IUGR babies are likely to have respiratory and other problems at delivery and after birth, which must be treated immediately in a specialized neonatal unit. Crucially, a Doppler study will help determine if there is any increased risk of baby dying. Such a finding will speed up your doctor’s decisions and interventions to prevent this from happening.
How about the safety of my baby and me?
A Doppler study, which is carried out during the 2nd and 3rd trimesters, is safe for both the mother and her baby when it is performed by an experienced and trained sonographer or doctor.
Are there any risks to having frequent Doppler ultrasound scans?
There are no limitations to the number of times you can take this exam. When IUGR is suspected, a Doppler test is done once a week. However, when there are pathological Doppler findings, the scan will be performed two or three times per week; in special cases, it might be done daily. According to the available evidence, Doppler scans appear to be safe for both the mother and the unborn baby.
Please read through the following before your appointment
- Please arrive 10 – 15 minutes before your appointment to allow time to fill out our patient registration forms, including a brief family medical history, and sign the patient’s terms and conditions agreement. You can read through the agreement by clicking the link below.
- Please bring your doctor’s referral/ request form.
- This is not a cosmetic scan. Vital information about the wellbeing and health of your baby will be obtained in these scans. Please treat it with the appropriate reverence and respect.
- The Sonographer needs to concentrate on measuring and observations that she needs to make during the assessment. Please keep talking and questions during the visit – especially in the scan room – to a minimum. There will be time after your scan to ask questions and to discuss any findings made during your appointment.
- We understand that it is very exciting to find out the gender of your baby. Please understand that it is not always possible to accurately determine the gender and that the sonographer will ask you whether you want to know. Please note that no scan will be extended for the sole purpose of determining the gender.
- We gently remind you that only the patient and her partner (or ONE other chosen person) will be attending the examination.
- Children under 10 years are not permitted in the scan room. No exceptions.
- Please allow two hours for your visit to MN Sonography. This will usually be adequate time for your consultation, examination, report and photos to be prepared for you to take home. Appointments are an average of 45 minutes long. However, depending on how the baby is lying, appointments can take up to 2 hours. Please plan your day accordingly.
- No cell phones will be allowed in the scan room under any circumstances. Cell phones must be switched off upon entering the scan suite as these devices tend to disturb all involved if left on.
- Absolutely no video recordings with your cell phone will be allowed under any circumstances. No exceptions. The photographs taken during the visit will be sent to your email as soon as it is possible to do so, usually immediately after the scan.
- How well the baby can be seen depends on the quality of the ultrasound and the skill of the person doing the scan. Other contributing factors include the pregnancy duration, the position in which the baby is lying and the placenta as well as how much amniotic fluid is present. Also, please note that an Increased BMI may cause difficulty in visualizing all the details well due to an increased amount of fat or scar tissue in your abdominal wall.
- What happens when an abnormality is identified? The sonographer will refer you to a specialist as determined by what is seen on the scan.
- MN Sonography is committed to you as parents and your unborn fetus and we have access to best of the best specialist in their field in South Africa.
