Prenatal test

Prenatal diagnostics

Prenatal tests are part of the extended prenatal diagnosis. Prenatal diagnosis is the examination and early detection of diseases before the child is born in the womb. The examination can be carried out either on the fetus itself or on the mother, for example the maternal blood. These examinations can be carried out non-invasively and invasively.
Non-invasive procedures are not dangerous and are carried out externally. The most common methods of prenatal diagnosis are various types of ultrasound during pregnancy, as well as measurements of the neck transparency, measurements of the nasal bone and blood tests of the mother.

Invasive diagnostic procedures mainly involve Punctures and biopsies the umbilical cord, the placenta and the Examination of the amniotic fluid of the fetus. Some of these screening methods are normal routine examinations during pregnancy; others can be performed additionally if there is a reasonable suspicion of an illness in the unborn child.

Most examinations can only be done after the end of the third month of pregnancy. As far as we know today, there are no risks for the child with non-invasive procedures. Invasive methods involve minor complications, including miscarriage, as a low risk.

Read more about the topic here: Pregnancy check-up

Advantages and disadvantages of prenatal diagnosis

Prenatal diagnostics, in particular the prenatal test, is controversial in large parts of the western world, as the detection of certain diseases and the resulting decisions, such as termination of pregnancy, raise ethical questions. The tests are always useful in identifying diseases that can be treated well and would otherwise lead to serious health problems. These include in particular Malformations of the childthat can be corrected immediately or after birth. Also Metabolic diseases are possible, which run smoothly with a targeted therapy, but can cause severe damage if left untreated.

With the help of the prenatal tests, however, numerous Disabilities which do not endanger the health of the fetus directly, but which limit the life of the parents and the child enormously, both medically and personally. The most prominent example is that Trisomy 21 (Down Syndrome).

Inevitably, the wide range of prenatal tests also leads to an increased rate of consciously initiated abortions. Diagnostics of the fetus is also offered primarily to expectant parents who have an increased likelihood of genetic diseases. In the case of serious genetic diseases in the family in particular, it can be determined in advance whether an unborn child has inherited the affected gene. Test procedures are now available for more than 1000 hereditary diseases.

Consequences of the test results for parents and child

The possibility of prenatal tests sometimes confronts expectant parents with psychologically stressful questions. Nowadays a lot is possible, but not everything makes sense. Since 2010 it has been anchored in law that prior to performing prenatal tests and after receiving the test results, a intensive advice from the doctor is to be carried out.

The implementation of the possible prenatal tests has individually different consequences for each pair of parents, from no therapy at all to Termination of pregnancy anything is possible. Therefore, the doctor's consultation must always be about which one general risks for malformations and diseases there are diseases that come into question and what consequences the diseases can have. In addition, the doctor should explain the individual risks, including the parents-to-be, with regard to age-related or genetic damage. Then the prenatal tests should be discussed, what possibilities and limits they have, what risks they entail and what diagnostic alternatives are possible.

Many parents-to-be are not aware of the psychological effects of knowing or not knowing about a possible illness. Before agreeing to a prenatal test, it is essential to clarify whether you really want to know the diseases of the unborn child and, above all, which ones Consequences individually drawn from it. There is a general “right not to know”, so one has the right to refuse the tests offered or not to be informed of diagnoses that have already been made. No prenatal test result is directive. This means that a disease does not necessarily lead to an abortion. Many couples also take advantage of psycho-social counseling. One is also enshrined in law Consideration period of at least three daysto be seen after reporting the results. If there is a medical indication, it is still legal by law to perform abortions even in the later stages of pregnancy.

Costs and assumption of costs

As part of routine examinations for normal pregnancies, some tests are performed, including three ultrasound exams. The health insurance company usually pays for all costs associated with an ordinary pregnancy.
These include:

• Routine checkups of pregnant women (3 ultrasound examinations, blood tests HIV, Chlamydia, Hepatitis B. and other pathogens; see also: Pregnancy check-up)
• of the Hospitalization during childbirth
• as well as a Birth preparation course

Prenatal diagnostics that go beyond routine procedures must be carried out by the parents themselves. Blood tests for other potential pathogens, such as toxoplasmosis and chickenpox, are also recommended. For this purpose, other ultrasound methods can also be used, which vary in price. A color Doppler ultrasound costs around € 50, but a 4D ultrasound can cost up to € 250 extra. The health insurance company only provides additional prenatal diagnosis services if there is an urgent medical indication. The health insurance company also pays for an abortion that is carried out on the basis of a medical indication.

At Pregnant women older than 35, invasive measures are also paid for by the health insurance. The risk of malformations and diseases in the child increases with age, especially for the occurrence of a Trisomy (Presence of 3 chromosomes instead of just 2). The Amniocentesis (examination of the amniotic fluid) and the Chorionic villus sampling (Examination of the placenta tissue) are covered by health insurance companies for over 35-year-olds.

Test for trisomy 21

For a few years is a Blood test the standard procedure for determining a Trisomy 21 and thus Down syndrome in unborn children. It is a non-invasive method, through a simple one Taking blood from the mother. Previously, it was only possible to determine the trisomy via an amniotic fluid test or a chorionic villus biopsy. However, both procedures carry a low risk of unwanted abortion.

The prenatal test itself still has to be paid for. The costs are mostly around 500 € and currently these are not covered by the health insurance. The test can from the 11th week of pregnancy can be carried out, but the result is even more certain at later points in time. After submitting it to the laboratory, it usually takes about 2 weeks for results to be available. As the pregnancy progresses, the maternal blood contains more and more parts of the child's DNA, i.e. the genetic material in which chromosomal disorders can be recognized. If the result for the trisomy is positive, one of the invasive procedures must still be performed to check.

A previous ultrasound examination may suggest the presence of a trisomy 21. Individual signs in early childhood development can already indicate chromosomal disorders. In fetuses with Down syndrome, a increased neck thickness, a altered nasal cartilage or heart defects discovered early Be signs. However, a diagnosis cannot be made using ultrasound.

What prenatal tests are available?

Pregnant women currently have the choice between three prenatal tests:

1. Panorama test

The panorama test is one of three test methods available for determining Trisomies (Irregularities in the number of chromosomes) via the maternal blood. This is where the Blood drawn after the 11th week of pregnancy. The panorama test has the advantage that in addition to the Trisomy 21 other chromosomal disorders are also examined. So become one too Trisomy 18 and a Trisomy 13 found with the panorama test. Both trisomies are much more serious clinical pictures than trisomy 21. The survival rate for trisomy 18 is 6 days on average, for trisomy 13 it is less than a year. However, both chromosomal disorders are much rarer than Down's syndrome.

The manufacturer of the panorama test states that it can determine the risk of trisomies with 99% certainty. The panorama test itself costs only 399 €, but with the accompanying examination it costs around 550 €.

This prenatal test cannot be performed in the case of twin pregnancies. The DNA content of the child in the maternal blood is assessed; in the case of multiple pregnancies, it is difficult to differentiate between them. The costs are only covered by the health insurance company if there is a medically significant risk, for example in the case of pregnancies of over 35-year-olds.

2. Harmony test

The Harmony test is a particularly intensively scientifically investigated test. According to recent studies, the Harmony test detects around 99.5% of all trisomy 21 diseases. In addition to screening for trisomy 21, other diseases can also be determined on request. In addition to trisomy 18 and 13, this also includes the fetal gender and X or Y chromosome-specific disorders, such as Turner syndrome or Klinefelter syndrome.

The cost of the test for trisomy 21 is € 399. However, the Harmony test is not a reliable diagnostic tool either. If the prenatal test is positive, a placenta biopsy must always be performed to confirm the diagnosis.

3. Prenatal test

The prenatest also has the option of discovering other chromosomal disorders in addition to trisomy 13, 18 and 21. The manufacturer advertises with a 99.8% certainty in screening for trisomy 21. However, rare errors can never be completely ruled out. The test result for the prena test is available after about 4-6 days, which is an advantage over the other test methods.

The manufacturer specifies the cost of the prenatest at € 350 to € 500, depending on the scope of the examination. The prenatest usually has to be paid for by the patient himself, but in many cases the health insurance companies already reimburse the costs. Especially in the case of high-risk pregnancies and existing suspicions from previous examinations.