[Prenatal diagnosis and therapy of adrenogenital syndrome with 21-hydroxylase deficiency].
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 intrauterine virilization of the external genitalia in affected female fetuses. Therefore, dexamethasone (3 x 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 [corrected].
Dörr
H G
HG
Universitäts-Klinik für Kinder und Jugendliche, Erlangen.
Sippell
W G
WG
Willig
R P
RP
D000284:Administration, Oral; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D015193:Chorionic Villi Sampling; D003907:Dexamethasone / Q000008:administration & dosage*; D005260:Female; D006580:Genetic Carrier Screening; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011296:Prenatal Diagnosis
D003907:Dexamethasone
Pränatale Diagnostik und Therapie des Adrenogenitalen Syndroms (AGS) mit 21-Hydroxylase-Defekt.