Prenatal screening
You are pregnant, and of course, you hope that your baby is healthy. Fortunately, most children are born healthy, and with a healthy lifestyle, you can give your child a good start. Occasionally, there are congenital abnormalities that we can detect during pregnancy. For this purpose, the NIPT (non-invasive prenatal test) is used. A small amount of blood is taken from the arm for this test. There is no risk of miscarriage associated with it. It is important that you are well-informed about the possible outcomes if you choose to undergo this test. Whatever decision you make, you may face difficult choices regarding whether or not to terminate the pregnancy. There is decision support available to help you make an informed choice. Learn more about prenatal testing at www.pns.nl.
If there are certain abnormalities within your (your) family, and it's unclear whether these are hereditary or not, you may be referred to the clinical genetics department. The clinical geneticist will investigate the role of hereditary factors in the development of a congenital abnormality in your case.
NIPT
Since April 1, 2017, you have the option to choose a NIPT: a blood test that indicates whether your unborn child has an increased risk of Down syndrome, Patau syndrome, or Edwards syndrome. The NIPT poses no risks to you or the baby and is not covered by your insurance. From 10 weeks of pregnancy, blood can be drawn from you for the NIPT. This blood is examined at one of the academic centers for the presence of an extra chromosome (trisomy) 13, 18, or 21, which are the causes of these syndromes. The NIPT detects the same conditions as the previously used combined test, but provides a much more reliable result.
A good test result has a reliability of 99.9%. A poor result has slightly less reliability. For example, if the NIPT indicates that the baby has Down syndrome or Edwards syndrome, this result is incorrect in 2-4% of cases. For Patau syndrome, it's incorrect in 47% of cases. Therefore, to confirm such a result, a chorionic villus sampling (CVS) or amniocentesis is always offered. The results of these tests provide certainty whether one of the three syndromes is present or not.
13 weeks ultrasound
As part of the screening, between 12 weeks and 3 days and 14 weeks and 3 days of pregnancy, you can undergo the 13-week ultrasound. During this ultrasound, we examine whether your child has any physical abnormalities. We also assess the amount of amniotic fluid and the growth of your child.
20 weeks ultrasound
Later in pregnancy, you can choose to have a 20-week ultrasound where we again examine the baby from head to toe. Read more about this in 'I am almost halfway'. episode 4 of the 9-monthplan.
For all these examinations, read more about them on www.pns.nl.