Prenatal diagnostics

Will our child be healthy? Many couples ask themselves this question and want answers from modern medicine to give them additional certainty that everything is okay with their child.You may be wondering which tests are possible, what the risks are and whether you want to take advantage of them. Find out here what prenatal diagnostics can do, what procedures are available and what you need to consider when making your personal decision for or against it.

Prenatal diagnostics refers to examinations and tests that go beyond regular check-ups. The methods specifically search for indications of

• genetic abnormalities (e.g. trisomy 21),
• possible malformations,
• hereditary diseases in the unborn child before birth.

This allows certain diseases to be ruled out or confirmed in early pregnancy.

Such special examinations are arranged by the gynecologist if there are indications of risk factors during the check-ups. The costs are covered by health insurance if there is a medical necessity.

Some tests can also be carried out at the parents' request without any specific medical suspicion. The costs may then have to be borne by the parents themselves.

In prenatal diagnostics, a distinction is made between invasive and non-invasive tests:

Non-invasive tests

Non-invasive tests do not involve penetrating the amniotic sac. These methods are considered less risky. These methods include:

• Nuchal fold measurement: The ultrasound examination in the 11th to 14th week of pregnancy provides a risk assessment for a possible trisomy 21.
• Fine or organ ultrasound: Sonography reveals changes in organs.
• Examination of the mother's blood: Laboratory tests provide an indication of trisomy 21, 18 or 13.
• First trimester screening: This is a combination of blood tests and nuchal fold measurement.

Invasive tests

Invasive tests involve penetrating the amniotic sac. These methods include:

• Invasive amniocentesis: In the 15th to 16th week of pregnancy, amniotic fluid is extracted through the mother's abdominal wall using a needle under ultrasound guidance. The fetal cells in the amniotic fluid are examined for genetic diseases.
• Chorionic villus sampling: This examination is possible from the 9th week of pregnancy. Cells are taken from the placenta through the abdominal wall or vagina using a fine needle and examined for genetic disorders.
• Cordocentesis: From the 19th week of pregnancy, blood is taken from the baby's umbilical cord through the mother's abdominal wall using a needle. The laboratory tests provide indications of anomalies and blood disorders.

These procedures can provide accurate results, but are associated with an increased risk for mother and child.

Possible advantages of prenatal diagnostics:

• Genetic defects such as trisomy 21 (Down syndrome), trisomy 18 (organ malformations), spina bifida (open back) or Turner syndrome can be detected.
• Certain anomalies can now be treated before birth.
• In particular in the case of genetic predisposition, the examinations provide additional certainty.
• Genetic defects such as trisomy 21 cannot be cured. However, parents are given the opportunity to prepare for the situation long before the birth, take advantage of counseling services or even consider terminating the pregnancy.
• The examinations carried out help to prepare the birth well, for example by means of a planned caesarean section.

Possible risks of prenatal diagnostics:

• The invasive examinations increase the risks of bleeding, rupture of the membranes and miscarriage.
• Tests can give an inconclusive result. Such findings may cause anxiety and unnecessary worries for the parents-to-be.
• Expectations of the diagnostics are often too high. No test offers 100 percent reliability.
• Diseases of non-genetic origin often remain undetected.
• The finding of a malformation triggers conflicts of conscience, as a conscious decision has to be made for or against a child with a disability.

A conspicuous finding understandably triggers worries and difficult considerations. However, you don't have to go through this alone. In North Rhine-Westphalia, in addition to medical care, you will also receive counseling and psychosocial support.

First of all, it is important to stay calm. In many cases, an abnormal finding does not automatically mean that your child is seriously ill, but that the indications need to be clarified in more detail through further examinations.

As a rule, the first step is a detailed medical consultation to classify the results. Your gynecologist will advise you on additional examinations to confirm the findings: Here, the result can always be an all-clear. If necessary, you will be referred to a specialized prenatal center. The doctors treating you there will give you comprehensive advice and inform you about possible further steps and your decision-making options.

If there are signs during the regular check-ups that something is wrong, the costs of further examinations are covered by the health insurance companies.

If the expectant mother is over 35 years old, the health insurance company will cover the costs of an amniocentesis or chorionic villus sampling.

Otherwise, if there is no suspicion of an abnormality in the child's development, prenatal diagnostic examinations are carried out at the parents' request.

If you have private health insurance, the assumption of costs depends on the tariff you have chosen.

Before you decide to undergo prenatal diagnostics, you should know: Almost all children are born healthy. Very few illnesses and disabilities are congenital, and only a small proportion of these can be detected before birth.

If you are considering the subject, you should weigh up the options: Prenatal diagnostics can provide important information that gives you peace of mind. But it can also trigger emotional stress.

Therefore, you should ask yourself in advance:

• What information is important for me or for us?
• What tests do I want to have carried out?

You should also consider the possible consequences before deciding for or against prenatal diagnostics:

• How do I deal with an abnormal finding as a mother?
• How do we deal with abnormal findings as a couple?

If you are considering prenatal diagnostics, it is important to be well informed about the individual procedures. Some tests are only possible in certain weeks of pregnancy. That's why it's important to make sure they are carried out at the right time.