Prenatal diagnostics to exclude chromosomal abnormalities

Before you decide to have one method of prenatal diagnosis carried out, you should think about what you plan to do if an abnormality were found. Of course, the extent of the child’s disorder plays a big role and you should become clear about whether the abnormality would be a reason for an induced abortion or whether you would be willing to live with a compromised child.

IT IS YOUR RIGHT. IT IS YOUR DECISION.

You decide whether prenatal screening is an option for you. You have the right to know as well as not to know.

Such a decision is always an individual one; I would like to advise and support you.

What diseases are we talking about exactly?

One of the most common disorders that have been found to correlate with the age of the mother is trisomy 21. Another name for trisomy 21 is Down Syndrome. The name “trisomy” means that chromosome 21 exists three times instead of just two. This results in various disorders, among which are heart defects and mental handicaps.

There also exist other kinds of chromosomal abnormalities such as the Turner syndrome. Some are more severe, others impose only few restrictions on life.

If genetic disorders have occurred in your family already, please let me know. A consultation concerning your risks before or at an early stage of your pregnancy might be a good idea.

In the following we would like to introduce you to a several methods of prenatal diagnosis.

PRENATAL DIAGNOSTICS – Prenatal diagnostics to exclude chromosomal abnormalities

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A sonography with our high-resolution ultrasound, as well as a blood test (PappA and free-ß-HCG) is part of the examination in order to determine the risk of trisomy 21 (Down-Syndrome) as well as trisomy 13 and 18.

The first trimester screening can take place between the 12th and 14th week of pregnancy. Accumulation of fluid beneath the skin is widespread in chromosomal disorders, as well as in cardiac defects and other illnesses, but in rare cases, also sometimes in healthy children. Furthermore we see the growth, the extremities and the  movement, the inner organs, the abdominal wall etc. and can do a very early organ-screening.

We calculate your individual risk for trisomy 21, 13, 18. In case of an intermediate risk we carry on with the NIPT (Harmony). The Harmony-Test analyses cell-free DNA from maternal blood to calculate the risk for a trisomy 21/13/18. The result will be available after 7 to 10 days. The idea is to get information at an early stage so that further examinations, if necessary, can be considered.

In most cases further diagnosis is not necessary, and therefore also complications of invasive diagnostic like amniocentesis or chorionic villous sampling can be avoided.

In selected cases, the NIPT test for trisomy 13, 18 and 21 can be covered by the statutory health insurance since July 1, 2022.

Prenatal examinations can have far-reaching consequences. Before you decide for or against a NIPT for trisomy 13, 18 and 21, it is important that you think about the following questions and get good advice in time:

  • Do you even want to know if your unborn child has a trisomy?
  • What would you do in case of an abnormal result:
    • Would you have the child in any case?
    • Or would you consider terminating the pregnancy?
  • What do you know about children with a trisomy?
  • Do you need more information?

Through a plazental biopsie (chorionic villous sampling) after the 12th week  or an extraction of amniotic fluid in the 15th week of pregnancy with a thin needle, that is inserted through the maternal abdominal wall, it is possible to examine the chromosomes of your unborn child in order to identify congenital defects. Those examinations provide evidence concerning the presence of chromosomal disorders, such as trisomy 21.

Diseases like cystic fibrosis which are specific mutations will not be checked in general, but in case a familiar disposition is known, it could be checked as well. That is why genetic counseling in cases of a familiar disposition is often helpful. Invasive diagnostic is therefore recommended in case chromosomal disorders are known in your family.

The risk of a miscarriage most times through infections or rupture of membranes is 0,5–3%.

The statutory health insurance covers the costs of this examination.