Prenatal screening

Prenatal screening

Fortunately the vast majority of children are born healthy and alive. Prenatal screening aims to find illnesses and disorders in an early stage which makes early treatment (is applicable) possible.

The regular blood test in the first trimester of your pregnancy is an example of prenatal screening. The test to screen for the chromosomal disorders Down’s syndrome, Edwards syndrome and Patau’s syndrome, through the combined screening test or NIPT and the anomaly scan around 20 weeks are other examples for prenatal screening. Are you considering to have your unborn baby screened for Down syndrome, Edwards’ syndrome and Patau’s syndrome? During you initial consultation we will discuss this matter extensively. We will answer all questions you may have.

The result of the screening is mostly reassuringly. However, sometimes the results makes you worry about the health of your unborn baby and may even lead to difficult choices. Did you test positive, and are you perhaps carrying a child with Down syndrome, Edwards’ syndrome or Patau’s syndrome? In that case, you will be offered follow-up testing to make sure the result is correct. We will guide you intensively to explain all options you may have and guide you regardless of the decisions you make in this.

Screening for Down syndrome, Edwards’ syndrome and Patau’s syndrome is not compulsory. It’s entirely up to you. You also decide how far you want to go with the screening test. You can withdraw from the screening test at any time.


Help with choosing

There is a questionnaire at that can help you to organise your own feelings and thoughts on the matter. There are also tips on how to discuss this topic with your partner or others.
You may have an increased risk, for instance because you have previously given birth to a baby with Down syndrome, Edwards’ syndrome or Patau’s syndrome. In that case, you are eligible for a counselling session at a Centre for Prenatal Screening, which is a department in a hospital. There, you will be given detailed information about the available options.


What could the result mean to you?

1. You will be reassured: the screening found no sign of any disorders. Or it found a disorder that will not pose a lot of problems in your child’s everyday life. Even if the results are good, your baby may still have a disorder, because the screening cannot find all types of disorder.

2. You become worried: the result indicates that your baby may be suffering from a disorder. Follow- up diagnostic testing is needed, just to be sure.

3. There may be difficult choices ahead: the follow-up diagnostic testing may show that you are carrying a baby with Down syndrome, Edwards’ syndrome or Patau’s syndrome. It is also possible that you are carrying a baby with a different abnormality (or chromosomal abnormality). This may force you to make some difficult choices. You must consider what you want to do.


Questions that can help you to reach a decision

  • Before your baby is born, do you want to know whether it has Down syndrome, Edwards’ syndrome or Patau’s syndrome? Or would you rather wait and see?
  • How much do you want to know about your baby before it is born?
  • Suppose that you get a bad result, and hear that your baby may have a disorder. In that case, would you want to have follow-up diagnostic testing just to make sure? You could decide not to take any further tests and to just carry on with the pregnancy. It’s up to you.
  • Follow-up diagnostic testing (chorionic villus sampling or amniocentesis) involves a small chance of a miscarriage. How do you feel about these screening tests?
  • If the follow-up diagnostic testing shows that your baby does indeed have a disorder, how can you prepare for this?
  • How do you feel about life with a child that has Down syndrome, Edwards’ syndrome or Patau’s syndrome?
  • What are your views about the possibility of terminating the pregnancy if the baby has a disorder?
  • If you were told that your baby has Down syndrome, Edwards’ syndrome or Patau’s syndrome, what would you want to do?


Links with more information