Recognizing disabilities in pregnancy

Prenatal diagnosis during pregnancy

During pregnancy, regular checks are carried out to ensure that you and your baby are doing well. During the examinations by your gynecologist, your baby can also be examined for a chromosomal abnormality or physical malformations – so disabilities can be detected at an early stage. Some of these examinations are recommended by the Federal Committee of Doctors and Health Insurance Companies as part of the maternity record, others are optional or are only recommended if the first findings are conspicuous. However, it is important that you always have the choice of which examinations should be carried out and whether you want to be informed of the results or not. The results of the examinations are usually recorded in the maternity record.

Prenatal diagnostics: identify disabilities or chromosomal abnormalities

The following examinations are used to rule out a malformation or chromosomal abnormality:

• Ultrasound scans : Your doctor will perform regular ultrasound scans to check your child’s physical development. They are recommended in the maternity record and should be used in any case.
• First Trimester Screening : First trimester screening can optionally be performed between 11th to 13th week of pregnancy. The nuchal translucency measurement is combined with factors in the mother and further observation in the child to form a risk factor. The risk factor describes a probability that a certain chromosomal disorder is present. In rare cases, for example if a neural tube defect is suspected, a triple test is also carried out. However, this has now become rather rare.
• Amniocentesis : If the first trimester screening is abnormal, your doctor will talk to you about the possibility of an amniotic fluid test, also known as amniocentesis. It is purely optional and must be well thought out, because it is not without risk for your child. It can be performed from the 14th to the 20th week of pregnancy. A hollow needle is inserted into the amniotic sac and amniotic fluid is removed for further examination. Alternatively, a chorionic villus biopsy or umbilical cord puncture can be performed.

Even if you only want the best for your baby, you don’t have to use all the services available to identify developmental disorders or malformations in your unborn baby. Discuss with your doctor in advance which examinations you would like to have and in which cases you would like to be informed about the results of the tests.

What to do in the event of a conspicuous finding?

You should not only inform yourself well about the methods and possibilities of prenatal diagnostics, but also think about the consequences of an abnormal test result. Is an abortion an option for you in such a case? In the unlikely event of a conspicuous finding, do you want to deal with the topic at an early stage? Read below what speaks for and against the investigations and form your own opinion.

Pro – This speaks for prenatal diagnostics

• If you’ve already lost a child or have a genetic condition in your family, then a normal test result might give you peace of mind.
• If you are 35 years of age or older, the risk of a chromosomal abnormality in your unborn child increases and prenatal screening is recommended.
• A conspicuous test result allows you to prepare for your child’s disability even before the birth.

Cons – This speaks against prenatal diagnostics

• The results are never 100% certain, but always only determine a probability. They often result in follow-up investigations. Pregnancy can be a turbulent and stressful time for you and your baby.
• A conspicuous test result can be very stressful because it requires you to make a decision that you may not be able or willing to make.
• The test results usually do not necessarily say anything about the severity of the malformation in your baby, only that it is present. This further complicates a decision for or against the baby and increases your worries.
• Test results often depend on the user, the devices and programs used as well as the type and duration of the test. This can lead to misinterpretations.
• Amniotic fluid testing, umbilical cord puncture and chorionic villus sampling have a miscarriage risk of about 0.5 to 2 percent.
• Disabilities can be identified through prenatal diagnosis, but cannot be cured.

For the decision for or against the prenatal diagnostics you should take enough time and trust your feelings and your experiences. Discuss this with your doctor, your midwife and your partner. At a counseling center you and your partner can get comprehensive information and find support.

Human genetic counseling centers and pregnancy conflict counseling

Are there genetic diseases in your family and you are not sure whether they could be inherited? In a human genetic counseling center you can clarify before or during pregnancy how high the risk is for your unborn child to develop this genetic disease. You and your partner should be aware that not only your child’s health is being tested here, but also your genetic health.

A pregnancy conflict consultation, on the other hand, informs you about the possibilities, risks and consequences of prenatal diagnostics. Here you have the opportunity to clarify your situation in a direct and confidential conversation with a counselor and to come to a decision. The advice is of course confidential and free of charge.