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A non-invasive prenatal test (NIPT) is a screening test aimed at low-risk women and involves a simple analysis of your blood. During pregnancy, some of your baby’s DNA will pass into your bloodstream through the placenta, and from ten weeks’ gestation it can be screened for your baby’s sex and chromosomal abnormalities.
The NIPT screens for chromosomal abnormalities including Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13) and Turner syndrome. While a NIPT identifies 99 per cent of Down syndrome cases, it is important to know that it’s a sensitive screening test, not a diagnostic tool. This means it can only tell you whether there is an increased risk of having a baby with these abnormalities, rather than giving you a definitive answer.
You can expect to get your results a few days after your test. If you receive high markers for any chromosomal abnormalities, you will be offered an amniocentesis, which is a diagnostic test that screens the amniotic fluid and can be performed after 16 weeks’ gestation, or Chorionic Villus Sampling (CVS), which involves taking a sample of tissue from the placenta and can be done after 11 weeks’ gestation. Genetic counsellors work closely with families who are navigating positive results from the NIPT and offer support by discussing your options and possible outcomes at length. If you and your partner don’t feel that you want to endure further testing, you have every right to decline.
At this point, you may like to work with your assigned genetic counsellors to learn more about your baby’s diagnosis, what you can expect for the remainder of your pregnancy, labour and birth, and how you can best prepare for your baby’s arrival. You may be cared for by a team specialising in high-risk pregnancies and, in most cases, you will be referred to paediatric specialists, who will help you understand the full picture of your baby’s diagnosis as well as how to navigate the first weeks and months of your baby’s life. Of course, there are always unknowns, as there are in each and every pregnancy.
The NIPT isn’t a standard pregnancy test and is not currently available for rebate through Medicare or private health insurance. If you are interested in getting it done, you’ll need to organise a referral from your GP or pregnancy care provider and you’ll pay roughly $400.
There are a number of reasons why your care provider may advise you to have the test, including:
You can learn more over at Pathology Tests Explained and Raising Children
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