Prenatal screening (NIPT or combined test) lets us assess the chances of your child having Down’s syndrome, trisomy 13 or 18, or spina bifida. Every pregnant woman is eligible for prenatal screening.
Prenatal testing is examining your baby during your pregnancy. It is used to determine the likelihood that your baby has a birth defect. Prenatal testing is not mandatory. We will provide extensive information about the screening options and what will happen if a birth defect is found.
It is always difficult to start talking about prenatal screening during the very first checkup. It’s still early in your pregnancy and you’re happy that all is well after the first ultrasound. But it is important to inform you early on about your options for prenatal testing for any chromosomal abnormalities. This is why we share this information with you during your first checkup. If you’re interested in these prenatal tests, we will schedule an appointment around the 11 week mark. Then we will have an in-depth talk about prenatal screening and provide more information.
The NIPT is a test that has been available as a pilot in the Netherlands from April 1, 2017 as part of the TRIDENT 2 study. The test has already been proven; it has been used in other countries for years. The test is now also available in the Netherlands.
A blood test is used to test the blood for Down’s syndrome (trisomy 21), trisomy 18 (Edwards’ syndrome) and trisomy 13 (Patau syndrome). NIPT results can be normal or abnormal. The NIPT does not offer complete certainty. If there is an indication of a chromosomal abnormality, further testing can still reveal that the child is healthy. This is why further testing is always necessary in the event of an abnormal NIPT result. You can then choose to have a chorionic villus sampling (CVS) or an amniotic fluid test (AFT). If the test results are normal, the chances of your child having trisomy are so small that we do not advise doing follow-up tests.
During the intake, we ask you whether you would like an extensive counseling appointment for the NIPT. If you are interested, we will provide you with a folder to read at home and schedule a half-hour appointment at 11 weeks. A term ultrasound is always performed prior to this appointment. The midwife will talk to you about the NIPT and explain what exactly it entails. If you choose the NIPT, you will receive a lab form for a blood test at the STAR.
DON’T FORGET TO TAKE THESE THINGS WITH YOU!
1: Lab form (you receive this from us during the counseling appointment)
We always inform you about the results via telephone and email. That means we also call if the results are good. If there are “additional findings,” the Erasmus MC’s clinical geneticist will contact you.
After getting your laboratory form from us you can go to the STAR laboratory:
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