Prenatal Diagnostics

Will our child be healthy? Many couples ask themselves this question and turn to modern medicine for answers, seeking additional reassurance that everything is fine with their child. You may be wondering what tests are available, what risks are involved, and whether you want to take advantage of these options. Find out here what prenatal diagnostics can offer, what procedures are available, and what to consider when making your personal decision for or against them.

Prenatal diagnostics refers to examinations and tests that go beyond routine prenatal checkups. These methods specifically look for signs, even before birth, of

• genetic conditions (e.g., trisomy 21),
• possible birth defects, and
• inherited diseases in the unborn child.

This allows certain conditions to be ruled out or confirmed as early as the first trimester.

Such specialized tests are ordered by the obstetrician if routine checkups reveal indications of risk factors. The costs are covered by health insurance if there is a medical necessity for the test.

Some tests can also be performed at the parents’ request even without a specific medical indication. In such cases, the parents may have to cover the costs themselves.

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

Non-invasive tests

Non-invasive tests do not involve breaking the amniotic sac. These procedures are considered to carry fewer risks. These methods include:

• Nuchal translucency measurement: An ultrasound examination between the 11th and 14th weeks of pregnancy provides a risk assessment for possible trisomy 21.
• Detailed or organ ultrasound: The ultrasound reveals abnormalities in organs.
• Maternal blood test: Laboratory tests provide an indication of trisomy 21, 18, or 13.
• First-trimester screening: This is a combination of blood tests and nuchal translucency measurement.

Invasive tests

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

• Amniocentesis: Between the 15th and 16th weeks of pregnancy, amniotic fluid is extracted under ultrasound guidance using a needle inserted through the mother’s abdominal wall. The fetal cells in the amniotic fluid are tested for genetic disorders.
• Chorionic villus sampling: This test can be performed as early as the 9th week of pregnancy. Using a fine needle, cells are extracted from the placenta through the abdominal wall or the vagina and tested for genetic disorders.
• Umbilical cord puncture: Starting in the 19th week of pregnancy, blood is drawn from the baby’s umbilical cord using a needle inserted through the mother’s abdominal wall. Laboratory tests provide evidence of anomalies and blood disorders.

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

Possible benefits of prenatal testing:

• Genetic defects such as trisomy 21 (Down syndrome), trisomy 18 (organ malformations), spina bifida (open spine), or Turner syndrome can be detected.
• Certain anomalies can already be treated before birth today.
• These tests provide additional peace of mind, especially in cases of a family history of genetic conditions.  
• Genetic defects such as trisomy 21 are incurable. However, parents are given the opportunity to prepare for the situation well in advance of birth, to seek counseling, or even to consider terminating the pregnancy.
• The tests performed help ensure proper preparation for the birth, for example, through a planned cesarean section.  

Possible risks of prenatal diagnostics:

• Invasive tests increase the risk of bleeding, premature rupture of membranes, and miscarriage.
• Tests may yield inconclusive results. Such findings may trigger anxiety and unnecessary worry among expectant parents.
• Expectations regarding diagnostic testing are often too high. No test offers 100 percent reliability.  
• Conditions with non-genetic causes often go undetected.
• A diagnosis of a birth defect triggers moral dilemmas, as a conscious decision must be made for or against having a child with a disability.

An abnormal test result understandably causes concern and raises difficult questions. However, you don’t have to go through this alone. In North Rhine-Westphalia, you’ll receive not only medical care but also counseling and psychosocial support.

First and foremost, it’s important to stay calm. In many cases, an abnormal test result does not automatically mean that your child is seriously ill, but rather that the findings need to be clarified more precisely through further testing.  

Typically, the first step is a detailed consultation with your doctor to interpret the results. Your OB-GYN will advise you on additional tests to confirm the findings: In some cases, the results may turn out to be a false alarm. If necessary, you’ll be referred to a specialized prenatal center. There, the treating physicians will provide you with comprehensive counseling and explain possible next steps as well as your decision-making options.

If signs that something is wrong emerge during routine prenatal checkups, health insurance plans will cover the costs of further tests.

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

Otherwise, the following applies: Unless there is suspicion of an abnormality in the child’s development, prenatal diagnostic tests are performed at the parents’ request. The costs for these tests must be covered by the parents.

If you have private health insurance, coverage depends on the specific plan you have chosen.

Before you decide to undergo prenatal testing, you should know this: Almost all children are born healthy. Very few diseases and disabilities are congenital, and only a small fraction of those can be detected before birth.

As you consider this topic, you should weigh the pros and cons: Prenatal testing can provide important information that gives you peace of mind. However, it can also cause emotional distress.  

That’s why you should ask yourself in advance:

• What information is important to me or to us?
• Which tests would I like to have done?

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

• As a mother, how will I deal with an abnormal test result?
• How do we, as a couple, deal with an abnormal test result?

If you are considering prenatal testing, it is important to be well-informed about the individual procedures. Some tests can only be performed during specific weeks of pregnancy. Therefore, it is important to adhere to the appropriate timing for these tests.