Geburtsh. und Frauenheilkunde 52 (1992) 586
H. G. Dörr, W. G. Sippell, R. P. Willig: Pränatale Diagnostik und Therapie des Adrenogenitalen Syndroms (AGS) mit 21-Hydroxylase-Defekt.
Das Summary lautet wie folgt richtig:
Summary
Genetic counselling of the parents is prerequisite before prenatal diagnosis and prenatal
therapy of CAH. Today, chorionic villous biopsy with DNA probe is the method of choice
to identify homozygous CAH-fetuses. The aim of prenatal therapy is to prevent intauterine
virilization of the external genitalia in affected female fetuses. Therefore dexamethasone
3 × 0.5 mg/d p.o.) is given to the mother immediately when pregnancy is confirmed,
before prenatal diagnosis and karyotyping is possible. After the result of prenatal
diagnosis, treatment is continued until term only when the fetus is affected and female.
Prenatal diagnosis and effective treatment of female CAH fetuses greatly reduces the
need for corrective surgery and thus helps to alleviate anxieties of prospective parents
and therefore encourages further pregnancies. However, prenatal treatment of CAH to
date still is an experimental therapy.
