Many parents wonder whether their child will be healthy

Will I have a healthy child?

By maintaining a healthy lifestyle, you can partly control this yourself. However, in some cases a child is born with a rare condition. Some of these rare conditions can be detected through prenatal screening tests.

A very personal choice

During our first appointment, we will be asking you several questions regarding your personal and family medical history. We will also ask whether you want to know more about prenatal screening. If you do, we'll discuss the options and try to help you decide. It is a good idea to organise your first appointment around 6-8 weeks as this will give you plenty of time to decide.

Whether you want to do one or several prenatal screening tests is entirely up to you. Each test is reliable and gives you a clear indication of the probability of having a healthy child. However, a reassuring test result will never guarantee a healthy child.

There are several types of prenatal screening tests

Below, we will explain the options for prenatal screening in more detail. For more information, please visit www.pns.nl

NIPT: Testing for chromosome abnormalities in your baby

The NIPT is a blood test that you can take from 10 weeks of pregnancy. A small amount of blood is taken from your arm. This blood contains genetic material from the baby, coming from the placenta. The NIPT checks whether your baby might have a chromosome abnormality. A chromosome abnormality is a small default in the genetic material. NIPT only tests for abnormalities that may have serious consequences for your child’s health. Examples include Down syndrome, Edwards syndrome, or Patau syndrome. NIPT does not detect all chromosome abnormalities. But if the result is normal, that is very reassuring (99.9% accurate). However, if the test shows that there might be something wrong, it is not conclusive. In that case, further testing is needed, such as an ultrasound, a chorionic villus sampling (CVS), or an amniocentesis.

Every pregnant woman in the Netherlands can choose whether or not to have the NIPT. The test is safe for both you and your baby—you cannot have a miscarriage because of it. The cost of the NIPT is covered by your health insurance.

13-week scan: examination on physical abnormalities

As with the 20-week ultrasound, an sonographer uses an ultrasound device to check whether the child has any physical abnormalities. The big difference with the 20-week ultrasound is that 13-weeks is still early in the pregnancy. The child is smaller and less developed. There is less visible compared to the 20-week ultrasound, but some abnormalities can already be seen. These are often major abnormalities. The sonographer will tell you the results immediately after the ultrasound. In 95 out of 100 pregnancies, the sonographer sees no indication of an abnormality. Follow-up testing is then not necessary, but you can have the 20-week ultrasound done a few weeks later. At the 13-week ultrasound, the sonographer is not allowed to tell you whether you will have a daughter or a son. The 13-week ultrasound is performed between 12+3 weeks and 14+3 weeks and is reimbursed by your health insurance.
In the Netherlands you can only opt for the 13-week ultrasound if you participate in the scientific

Imitas Study. This study investigates the advantages and disadvantages of the 13-week ultrasound.

SEO: 20-week scan

The purpose of the 20-week ultrasound is to detect structural (anatomical) abnormalities; the baby is checked from head to toe. It is also checked whether the baby is growing well, whether there is enough amniotic fluid and where the placenta is located. In addition and on request, the sonographer can check whether you are expecting a boy or a girl.

If there is a suspicion of an abnormality in the baby, you will be offered further testing. This happens in about 5 out of 100 20-week ultrasounds. We will then refer you to colleagues in the OLVG or AMC. The 20-week ultrasound is performed between 18 and 21 weeks and is reimbursed from the basic insurance.

With chorionic villus sampling or amniocentesis, cells from the baby are examined

In a number of cases you are (directly) eligible for these invasive tests:

You have previously had a child with a detectable condition.
You yourself of someone in your immediate family was born with a detectable condition
NIPT gave an abnormal result: there is a high risk on a chromosomal abnormality
At the 20-week scan there were indications of abnormalities.

With chorionic villus sampling (11-14 weeks) a number of cells are taken from the placenta, with amniocentesis (after 15 weeks) a small amount of amniotic fluid is examined.

First of all, a rapid test is done for the most common chromosomal abnormalities, the result is available after about 5 working days. Then, if indicated, a more extensive test is done for many more abnormalities in the chromosomes. You will get this result after about 3 weeks. Both tests have a small risk of causing a miscarriage of about 2 in 500.