Fetomaternal medicine

This examination provides information on abnormalities in the number of chromosomes, such as trisomy 21 (see next paragraph), organ malformations (heart) and diseases of the child's musculoskeletal system. Comprehensive early organ diagnostics can also rule out numerous serious malformations. At the same time, details of the child's development can be assessed and the exact gestational age can be determined. In the case of multiple pregnancies, the assessment of the placenta and oocyte ratio is also of particular importance as a basis for planning the further care of the pregnancy.

The ETT can be used to determine the probability of a chromosomal disorder occurring in the pregnancy in question. The individual risk is calculated from several factors using special software. With the help of these tests, around 85 per cent of pregnancies with trisomy 21 can be detected. The risk of the live birth of a child with trisomy 21, 18 or 13 depends on the age of the mother and the gestational age. You can find out more about this and other details during the consultation.

In cell-free foetal DNA analysis (cffDNA), also known as NIPT (non-invasive prenatal testing), the DNA of your child is analysed in a blood sample in order to make a statement about trisomy 21, 18, 13 and sex-specific chromosomal disorders. With the help of these tests, around 99 per cent of pregnancies with trisomy 21 can be detected. An abnormal result is observed in around 0.1 per cent of normal pregnancies. This is due to deviations in the number of chromosomes, such as trisomy 21 (see next paragraph). An abnormal result in the NIPT examination leads to a recommendation for further invasive diagnostics. We only carry out the NIPT blood test after a prior ultrasound examination. The costs of the NIPT are covered by health insurance if the ETT reveals an increased risk.

The aim of this extended examination is to visualise and assess the function of the baby's organs, the amount of amniotic fluid, the baby's growth and the baby's movement pattern. Foetal echocardiography, i.e. a special examination of the baby's heart, is also part of the examination (see next section). Doppler sonography and 3D and 4D techniques can also be used to supplement conventional ultrasound diagnostics. The main aim here is to rule out malformations and foetal diseases as far as possible and thus contribute to a relaxed course of the pregnancy.

This method is used for a complete examination of the heart and the great vessels. The aim of the examination is to recognise cardiac malformations and cardiac dysfunction at an early stage. This is successful in 60 to 80 per cent of cases. An obstetric procedure adapted to the heart defect and delivery at a centre specialising in paediatric heart disease contribute significantly to improving the postnatal prognosis. However, there are heart defects that are difficult to recognise. These include, for example, narrowing of the heart valves. Their consequences may only become visible later in the pregnancy.

Ultrasound is primarily used to assess the baby's growth, the function of the placenta, the position of the baby and to check the length of the cervix. The assessment of the blood flow in the foetal and maternal blood vessels using Doppler sonography allows the early detection of poor placental function and other dangerous foetal conditions. The aim is to check that the unborn child is adequately supplied with blood and, among other things, to identify risk constellations for high blood pressure during pregnancy.

By removing tissue (biopsy) from the placenta, we obtain foetal cells, which are then analysed for the number and structure of the genetic carriers (chromosomes). We perform the biopsy under constant ultrasound guidance either through the abdominal wall (local anaesthetic) or through the vagina (98% painless puncture).

Under constant ultrasound guidance, a thin hollow needle is inserted through the mother's abdominal wall into the amniotic cavity and amniotic fluid is extracted. The foetal cells floating in the amniotic fluid are extracted to examine the genetic material carriers (chromosomes). This method can be used to diagnose the most common prenatal changes in chromosome structure or number. These include the numerical deviations of chromosomes 21, 18 and 13 as well as the sex chromosomes X and Y and theoretically the entire genetic information. This depends on the clinical question. This procedure takes less than a minute.

A prenatal blood test of the child is carried out with sonographically controlled umbilical cord puncture. The aim is to examine the baby's blood and rule out the possibility of anaemia or infections in the unborn child.