Prenatal Diagnostics: Is My Baby Healthy?

Prenatal diagnostic tests can be used to search specifically for indications of malformations or disorders in the unborn child. However, the results are not always clear.

Prenatal diagnostics, including prenatal diagnostics, comprises the tests during pregnancy that go beyond the regularly scheduled check-ups. These include various examinations which can be used to look for indications of malformations, chromosomal disorders or hereditary diseases in the baby. In some cases, however, the tests of prenatal diagnostics cause great uncertainty among expectant parents.

Prenatal diagnostics: Curse or blessing?

Which you should be aware of: Prenatal examinations cannot give you one hundred percent certainty that your child is healthy. If you decide to have a prenatal diagnostic examination, it may involve further tests, further uncertainty, fear and gruelling waiting. All this can mean that you can no longer experience your pregnancy with ease. It is often forgotten that 97 percent of all babies are born completely healthy. Most disabilities only arise in the course of life or are not recognisable at all before birth.

This makes it all the more important to obtain comprehensive information about the individual prenatal diagnostic procedures and to consider the consequences of such an examination if you are considering prenatal diagnostics.

You should ask yourself these questions in advance:

• What are you doing?
• Is there a risk of miscarriage?
• What results can prenatal diagnostics actually provide?
• How reliable is the result?
• What are the consequences of a detected disease or disability? Do we take our child as it is or is an abortion a possibility?

What can it do?

Many women and couples hope that prenatal diagnostic examinations will give them the reassuring certainty that everything is fine with their baby. But prenatal diagnostics cannot guarantee a healthy child.

This applies to all prenatal diagnostic examinations:

• The test results of prenatal diagnostics are often inconclusive, so that further examinations may be necessary to obtain certainty
• The tests do not provide a complete result, because only some of the possible impairments can be determined during pregnancy
• If disabilities and developmental disorders are discovered in the baby, only a few diseases during pregnancy can be treated at all
• Prenatal diagnostics cannot provide information about the severity and course of a disease or disability
• Illnesses or disabilities can be overlooked
• Misdiagnosis is possible

What methods of prenatal diagnostics are there anyway?

In prenatal diagnostics, a distinction is made between invasive and non-invasive procedures. Non-invasive procedures are ultrasound examinations and blood tests that do not involve the body. Invasive procedures are examinations that involve an intervention in the mother’s body.

Non-invasive methods include

• Detailed diagnosis: In the second so-called large ultrasound scan from the 19th week of pregnancy, the doctor examines your baby’s organs and also takes a close look at the amount of amniotic fluid and placenta.
• Measurement of nuchal translucency: An ultrasound examination between the 10th and 14th week of pregnancy is used to measure the nuchal fold and possibly other features of the unborn child. The doctor also pays attention to the shape of the nasal bone. A thickened nuchal fold and a shortened nasal bone can indicate various chromosomal aberrations, for example trisomies, or a heart defect.
• Blood tests as part of the first trimester test: These tests are performed in conjunction with nuchal translucency measurement. Certain hormone and protein levels are determined in the blood of pregnant women to provide indications of chromosomal abnormalities.
• Second trimester blood test: Once the period for the first-trimester test has elapsed, the blood can still be tested for two, three or four proteins until the 20th week of pregnancy.
• NIPT (non-invasive prenatal tests): Traces of the child’s genetic material are filtered from the blood of the pregnant woman. From this the risk (high, low, unclear) of some chromosomal aberrations in the unborn child can be determined.

However, these tests do not provide one hundred percent reliable results, but rather determine the risk of illness or disability in the baby based on statistics.

Invasive procedures include

• Chorionic villus biopsy (placenta puncture): In placenta puncture, cell tissue is removed from the placenta. Although the statements about a possible illness or disability of the baby are very reliable, the puncture also has risks. Statistically speaking, one to four out of 200 women who undergo placental puncture will miscarry as a result of the procedure.
• Amniocentesis (amniocentesis): During an amniocentesis, amniotic fluid is taken from the amniotic sac. The cells of the child contained in it are examined for chromosomal aberrations and hereditary diseases. Here, too, the results are very reliable, but they are also associated with a risk. After an amniocentesis, one woman in 200 loses her child.
• Cordocentesis/ choracentesis (umbilical cord puncture): The umbilical cord puncture is used to examine the child’s blood. Anemia or infections in the unborn child can thus be diagnosed and treated in the womb. Chromosomal examination and genetic analyses are also possible. The risk of suffering a miscarriage after the examination is one to three in every 100 women.

What are the advantages of prenatal diagnostics?

On the one hand, a negative result naturally calms the expectant parents and thus contributes to the fact that the expectant mother can enjoy the remaining weeks in a completely relaxed manner. On the other hand, a possible handicap or illness does not have to lead to an abortion. However, many expectant parents would like to be prepared if something should happen to the child.

This early knowledge can in some cases also improve the starting conditions of the unborn child. For example, in the case of a heart defect, the birth can be planned from the outset in a special clinic in order to ensure optimum initial care. The time afterwards can also be better prepared and the parents can mentally adjust to it.

In this difficult situation, parents are entitled to free psychosocial advice and support. As a rule, this is offered by pregnancy counselling centres.

Right not to know: You don’t have to do anything!

If you do not want to have any of these examinations, it is your right! Your gynaecologist is not allowed to do tests you have not agreed to, because every pregnant woman has the right to not know. Therefore, every prenatal genetic test requires the written consent of the expectant mother. She can withdraw this consent at any time.

In principle, doctors are obliged to inform pregnant women about any abnormal findings that may occur during the course of normal preventive medical checkups. If you do not want this, you should tell your doctor explicitly.

Who pays for the additional examinations?

If there is no suspicion of any abnormality in your baby’s development and you would like to have a prenatal diagnostic examination carried out, this falls under the so-called Individual Health Services (IGeL), which you must pay for yourself. If there are any signs that your baby may be impaired or not be healthy as a result of this or during the course of the pregnancy, your health insurance company will cover the costs. However, if you are over 35 years old, your pregnancy is automatically classified as a high-risk pregnancy. In this case, your insurance company will pay for the amniocentesis, if you wish to have one.