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: screening on Down, Patau and Edward's syndrome

The Non-Invasive Prenatal Test (NIPT) is used to research whether your child may have Down- Patau and Edwards syndrome (trisomy 21, 13 and 18). You may also choose to have other chromosome abnormalities tested with the NIPT. A blood sample is taken from the arm, and genetic material from the baby's placenta is examined in this blood.

A reassuring result of the NIPT is very reliable (99.9%), but when the NIPT indicates that the baby may have a chromosome abnormality, this is not always conclusive. Further research is advised by ultrasound examination, chorionic villus sampling or amniocentesis. Every pregnant woman in the Netherlands can choose to have the NIPT done. NIPT is safe for you and the baby, you cannot get a miscarriage because this test. The NIPT is paid for 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.