Prenatal diagnostics

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The term prenatal diagnosis or prenatal diagnosis (abbreviation PND; composed of “before” and natal “birth”, see prenatal, as well as diagnosis) refers to studies on fetuses and pregnant women (see also early detection of diseases).

Common methods are, on the one hand, the non-invasive examinations carried out only from outside the body, such as the ultrasound examination (sonography), which includes the neck transparency measurement, the nose bone measurement (at the 12th to 14th week of pregnancy), the fetometry, the fine ultrasound, the Doppler sonography, the 3D ultrasound and the 4D ultrasound. The investigations of hormone concentrations in maternal blood (serological investigations) such as the triple test, the quadruple test and, as a combination of both methods, the first trimester screening (ETS, an investigation in the first trimester of pregnancy) and the integrated screening (combined investigation of the biochemical serum parameters for risk determination for fetal chromosomal and occlusion disorders) are also among the non-invasive methods. The non-invasive diagnosis also includes the prenatal paternity test, which is possible from the 9th week of pregnancy and in which fetal DNA is isolated and analyzed on the basis of a blood sample from the mother. Invasive examinations of prenatal diagnosis, i.e. within the body, are chorionic villus biopsy (CVS), amniocentesis (AC) and umbilical cord puncture. An earlier method of prenatal diagnosis was amnioscopy.

History

First amniocentesis on prenatal diagnostics were conducted in 1930 by Thomas Menees and others.
The basis of modern prenatal diagnosis was laid by the British obstetrician Ian Donald in 1958 with the first sonographic representation of an unborn child. The technical development of the ultrasound devices enabled high detail resolution and thus the detection of structural malformations of fetal organs with high diagnostic reliability. Thus, the diagnosis of abdominal wall breakthroughs, diaphragm hernias, displacements of the cardiac axis, malformation of organs such as e.g. the lungs or the kidneys, cyst kidneys, malformations of the extremities, obstructions in the gastrointestinal tract, etc.

Non-invasive ultrasound technology has been extended by the development of invasive techniques. In 1966, Steele and Breg demonstrated the possibility of extraction and chromosomal examination of fetal cells contained in amniocentesis during the second trimester of pregnancy. In the early 1980s, the chorionic villus biopsy was published. In this procedure, during the first trimester of pregnancy, cells are taken from the villi of the egg skin (chorion), which later forms the placenta. These cells are cultured and subjected to genetic analysis. Later followed with early amniocentesis, the puncture