Prenatal screening 

Most babies are healthy at birth. A congenital abnormality is diagnosed in almost 5% of all newborns. In some cases, it is possible to detect the abnormality before birth through prenatal screening. Every pregnant woman is offered further testing to check for congenital abnormalities in her unborn baby. For every test, you can decide for yourself whether or not you want to have it performed. 

You can have your baby tested for the following syndromes: Down syndrome, Edwards syndrome and Patau syndrome. These syndromes are all trisomies, meaning that there is an extra chromosome in a particular place in the DNA. Children with Down syndrome (trisomy 21) have an intellectual disability and are more likely to experience health problems than children without a trisomy. Their developmental potential varies, but people with Down syndrome need guidance and support throughout their lives.   

 Children with Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13) often die before or around the time of birth. They rarely live beyond one year. These children have severe physical abnormalities and severe intellectual disabilities. 

 Before starting prenatal screening, consider what it would mean for you if you had a child with, for example, Down syndrome. If you decide to have your baby tested for Down, Edwards or Patau syndrome, you can choose between 2 tests: the combined test or the NIPT.

NIPT

 NIPT stands for ‘non-invasive prenatal test’. The test is not dangerous for the unborn child. During this test, blood is taken from the mother and examined in the laboratory for fragments of genetic material (DNA) originating from the placenta. This DNA is almost always the same as the child’s. For this reason, the result is not 100% certain, and an abnormal result requires follow-up testing for confirmation. This can determine whether there are indications of Down, Edwards or Patau syndrome in the child. You can have the NIPT from 10 weeks  of pregnancy  .

 The NIPT detects approximately:

• 97 out of 100 fetuses with Down syndrome.

• 90 out of 100 fetuses with Edwards syndrome.

• 90 out of 100 fetuses with Patau syndrome. 

The pregnant woman’s age does not affect the sensitivity of the NIPT. 

There is a small chance that a baby may nevertheless be healthy despite an abnormal result. In that case, a  chorionic villus sampling  or amniocentesis is needed for confirmation, particularly if you are considering ending the pregnancy. If the result is normal, no further testing is needed. The chance of an abnormality nevertheless being present is then negligible. 

 In some cases, the NIPT detects other conditions. We call these incidental findings. In advance, you can indicate whether or not you want to know about any incidental findings. 

From 1 April 2024, the NIPT will be fully reimbursed, so you will not have to pay for it yourself—even if there is no medical indication.

For more information, visit www.pns.nl

ETSEO - 13-week ultrasound

Since 1 September 2021, the 13-week ultrasound has been available in the Netherlands. This ultrasound, also known as ETSEO (First Trimester Structural Ultrasound Examination), is a medical examination, like the 20-week ultrasound, in which your baby is checked for physical abnormalities. You decide whether you want to have the 13-week ultrasound. If desired, it can be performed from 12+3 through 14+3 weeks of pregnancy—that is, from twelve weeks and three days through fourteen weeks and three days of pregnancy.

Like the 20-week ultrasound, this ultrasound is covered by the government, even if you do not have Dutch health insurance or a BSN.

Unlike the 20-week ultrasound, a consent form must be signed jointly. This is because, with the 13-week ultrasound, you are taking part in the scientific IMITAS study. The baby’s sex is not assessed during this ultrasound either, as this is not part of the study or its purpose.

SEO - 20-week ultrasound

 
The 20-week ultrasound is a medical examination. Another name for it is the structural ultrasound examination (SEO). This ultrasound is performed between weeks 18 and 21. Its purpose is to check whether the baby has any physical abnormalities. Examples include spina bifida or anencephaly, hydrocephalus, heart defects, and abnormalities of the kidneys, bones, arms or legs, among others. The examination also checks whether the baby is growing well and whether there is enough amniotic fluid. 

The 20-week ultrasound is a reasonably reliable method for detecting serious congenital abnormalities. If you choose to have this ultrasound, please bear in mind that other abnormalities may also be detected. The ultrasound poses no risks.

 Determining the baby’s sex is not the purpose of the 20-week ultrasound. If the sonographer can see the sex, you will only be told if you ask. 

Do you need help making your choice? Visit www.pns.nl  where you will find a questionnaire to help you organise your own feelings and thoughts. It also contains tips on how to talk about this subject with your partner or others.