NIPT (non-invasive prenatal test)

The non-invasive prenatal testing (NIPT) is an excellent screening test for Down syndrome due to trisomy 21 (an extra chromosome 21). Other common abnormalities caused by an extra chromosome such as Edward syndrome (an extra chromosome 18) and Pateau syndrome (an extra chromosome 13) can also be detected by NIPT which analyses DNA originating from the baby and circulating in the mom’s blood.  NIPT entails obtaining a blood specimen from the mom.  There are different variations of this test, some of which can also screen for specific condition such as DiGeorge syndrome. If you are Rh negative, NIPT can also determine whether the baby is Rh negative or positive.

The main disadvantage is the cost, which is not reimbursed routinely by all medical aids, and only by some medical aids under specific conditions. Though very accurate, it cannot completely replace an amniocentesis or chorionic villus sample. NIPT can be done from 10 weeks. The most cost-effective screening is to a combination test; i.e. a blood test at 8 – 12 weeks, followed by an ultrasound examination at 12 weeks. With this, the risk of your baby having a chromosomal abnormality is calculated to help determine whether NIPT is the most appropriate screening test for you.

If you prefer having an NIPT before 12 weeks and do not mind paying for it yourself, or if your medical aid will refund NIPT, we recommend an ultrasound evaluation beforehand, to make sure that NIPT is the appropriate route to go, and to help you choose between the different types of NIPT. Genetic counselling can be invaluable, given the myriad of choices.

If you would like to know more, please read this info, contact us, or browse the site of a provider such as Natera or Next Genetics. The latter also has an instructive cl***************@cl****.za&datesent=2018-04-17&clientno=000000″>video about NIPT.