Methods of diagnosis: First Trimester Screening (Trisomy 21, 13, 18)

A sonography with a high-resolution ultrasound, as well as a blood test (PAP-A and free-ß-HCG) is part of the examination in order to determine the risk of trisomy 21 (Down-Syndrome). The test for nuchal translucency can take place between the 12th and 14th week of pregnancy.

Accumulation of fluid beneath the skin is widespread in chromosomal disorders, as well as heart/cardiac defects and other illnesses, but in rare cases, also in healthy children.

We calculate your individual risk for a chromosomal defect esp. trisomy 21, 13 or 18 of your unborn child. In case of a higher risk, one should proceed with an analysis of the chromosomes and fetal echocardiography of the unborn child as well as a detailed sonographic diagnosis between the 20th and 22nd week of pregnancy (extended screening of the organs) to resolve any suspicions. The idea is to get information at an early stage so that further examinations, if necessary, can be considered.

In most cases parents are relieved and further diagnosis is not necessary, and therefore also complications of invasive diagnostic like amniocentesis or chorionic villous sampling can be avoided.

The nuchal translucency test will not be paid for by the statutory health insurance.

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