Non-invasive/invasive testing is available for complicated clinical cases
Non-invasive (NIPT)
During pregnancy, some of your baby’s DNA enters your bloodstream.
(NIPT) is a simple blood test that analyses the DNA of an unborn baby, found in the mothers’ blood, to detect certain chromosomal conditions in a pregnancy.
The NIPT can be done from as early as 10 weeks and is more accurate than an ultrasound and the maternal blood test to detect chromosomal conditions, providing a greater sense of comfort.
The following chromosomal conditions can be detected with NIPT:
- Down syndrome (Trisomy 21)
- Edwards syndrome (Trisomy 18)
- Patau syndrome (Trisomy 13)
- Sex chromosome conditions including Turner syndrome (Monosomy X) and Klinefelter syndrome (XXY)
Please feel free to visit Triscreen or Invitae should you have more questions.
Triscreen: https://nextbio.co.za/triscreen/
Invitae: https://www.invitae.com/en/pregnancy
Invasive Testing (Chorionic Villous Sampling/Amniocentesis)
In the event of a high-risk result with screening tests (combined first-trimester screening or cell free fetal DNA), parents have the option of undergoing diagnostic testing. A chorionic villus sampling is performed between 12 and 14 weeks, where a small placental biopsy is obtained for chromosomal testing. An amniocentesis is the alternative and can be performed after 16 weeks of gestation. Here a small volume of liquor is obtained for chromosomal testing.
