I am pregnant

In 2 - 5 % of all pregnant women events that affect the pregnancy or the unborn child occur. The possibility that the child may have a genetic disorder (e.g. Down syndrome) is one of them.
There are several ways to assess this risk prenatally, which we elucidate below.

First trimester screening

During first trimester screening at 11+0 to 13+6 weeks of pregnancy, ultrasound is used to measure nuchal translucency (also called NT). In addition, imaging of the nasal bone and assessment of blood flow patterns in different areas (ductus venosus / tricuspid valves) allow the result to be more precise.
From the maternal blood, the biochemical parameters PAPP-A and free hCG produced by the placenta are determined. Based on the combination of the ultrasound markers and the hormone values, the individual risk for the presence of trisomy 21, 13 or 18 in the unborn child can be calculated.

MOrE InformationS

fetalis - fetal DNA in maternal blood

In the fetalis test, a small amount of the expectant mother's blood is examined for possible chromosomal defects in the unborn child from pregnancy week 10+0. This method is safe for both the fetus and the mother.

The fetal placental DNA that enters the mother's blood is analyzed in the laboratory for the most common chromosome number abnormalities, namely trisomies 21, 18, and 13, as well as Monosomy X. The results provide information on how the fetus is affected by chromosomal abnormalities. The result provides information about the probability that the unborn child has one of these chromosomal disorders.

fetalis-Test

Chorionic villus sampling

The purpose of the placenta puncture or chorionic villus sampling is to obtain cells in order to perform a chromosome analysis and molecular genetic or biochemical examinations of the fetus. It can be performed from the 12th week of pregnancy - at a time when amniotic fluid puncture (amniocentesis) is not yet possible - and thus represents a very early possibility of genetic testing.

MOrE InformationS

Amniocentesis

During amniocentesis, fetal cells floating in the amniotic fluid are obtained and cultured. The subsequent examination can exclude numerous chromosomal disorders with a high degree of certainty. The result of the chromosome analysis is available after 7-10 days. Usually, amniocentesis is performed between the 16th and 19th week of pregnancy. However, amniocentesis can also be performed at any later stage of pregnancy.

MOrE InformationS

Consultations

COSTS

Provided that the responsible medical person (according to GenDG) gives an indication for an examination, human genetic services in the context of pregnancy can usually be billed to the associations of statutory health insurance physicians.

For privately insured patients, the laboratory services provided are clearly summarized in one invoice. This invoice is submitted to the private health insurance company for reimbursement. At this time, we recommend that you inquire about the possibility of reimbursement by your health insurance before undergoing the examination.

Human genetic testing can also be offered as a self-pay service. In this case, the costs must be borne by the patient without the possibility of reimbursement.

The test for fetal DNA in maternal blood (fetalis) is currently not yet a health insurance benefit, but is expected to be included in the fee schedule catalog at the beginning of 2021. At the present time, please consult your health insurance company about meeting the costs.