How can get the most of NIPT/NIPS testing?‍

Conventional testing is available during the first trimester of your pregnancy and it’s called FTCT (First Trimester Combined Test). It involves the use of ultrasound technology to estimate the NT (Nuchal Translucency) count and blood screening test.

This detection test has an accuracy rate between 85-90% but may still help give an idea of possible mother and baby abnormalities.

The IONA trademarked test is currently the only screening measure that gives the choice of including the outcome of the FTCT test in the picture to offer a more complete and accurate result. However, you can get tested for trisomy DNA without getting an extra FTCT test.

Many pregnant females go for an IONA test within 10 weeks of pregnancy after an initial ultrasound check, which has to be done first before IONA screening.

This implies that a lower number of pregnant women will be subject to additional and invasive screening tests such as amniocentesis or Chorionic villus sampling (CVS), which are troublesome and slightly risky for the mother and the baby.

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Who is the ideal candidate for this test? Am I a good candidate?

You can have this test ideally if you’ve been pregnant for 10 weeks with single or twin babies, or if you have a surrogate pregnancy with donor eggs.

How do experts report and interpret NIPT screening results?

Results are typically split into high or low risk of genetic irregularities. If the result falls under the “low risk” category, there is a low chance of having a baby affected by 13, 18, or 21 trisomy anomalies.

If the result is “high-risk”, it means there is a high chance for trisomy and the test results should be validated by a subsequent and more invasive prenatal testing such as CVS or amniocentesis.

If the test has “no result”, which is very uncommon, it means that there is not enough or clear sample of cell-free DNA to get an accurate result. In this case, your doctor may draw a blood sample from you again and re-restart the testing process.

Keep in mind that if your doctor or genetic expert finds any genetic irregularities, these can not be reversed. If your unborn baby appears to have Down syndrome, for instance, you will have to decide whether you want to proceed with the pregnancy as usual or not.

Additionally, you will have to be familiar with all the actions you should take to take care of your baby both during pregnancy and once it’s over. Don’t hesitate to discuss your options with your doctor.

Is the screening process invasive? How?

NIPT is categorized as non-invasive as it involves getting a blood sample from the mother without bearing any risk for the mother or the baby. NIPT/NIPS is a screening method, something that implies that it won’t offer a definite answer or whether the baby has a genetic syndrome.

The screening check can only gauge the odds of having a certain genetic issue. For example, in some situations, NIPT tests may show a heightened risk for a genetic irregularity that affects the baby but there is actually a low risk that does not affect the baby, giving a “false positive”.

On the contrary, there is also a chance of “false negative” where the initial test gives a low-risk/negative result but the risk is actually much higher. Due to the fact that NIPT examines both the cell-free DNA of the mother and the baby, it may also find genetic abnormalities in the mother.

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At what stage of pregnancy can I have a NIPT test?

You may have, upon initial consultation with your doctor, a NIPT test once 9 weeks of pregnancy have passed, which is a bit earlier than other prenatal screening checks.

Compared to NIPT,  nuchal translucency screening is performed between the 11th and 13th week of pregnancy and CVS can be performed between the 10th and 13th week of pregnancy.

Likewise, the quad test can be done between the 14th and 22nd week and amniocentesis is typically done between the 16th and 18th week of pregnancy. In some cases, however, amniocentesis may be done much later in weeks 23 or 24.

Is NIPT highly accurate?

Studies have shown that NIPT screening tests generate fewer false results compared to typical blood tests conducted during the first three months of pregnancy e.g. quad screening.

Additional studies also suggest that NIPT tests have a high accuracy compared to typical screenings in determining the risk of a baby having Down or Edwards trisomy syndrome.