Dörr H G, Sippell W G, Willig R P
Universitäts-Klinik für Kinder und Jugendliche, Erlangen.
Geburtshilfe Frauenheilkd. 1992 Oct;52(10):586-8. doi: 10.1055/s-2007-1023188.
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].
在对先天性肾上腺皮质增生症（CAH）进行产前诊断和治疗之前，对父母进行遗传咨询是先决条件。如今，采用DNA探针进行绒毛膜绒毛取样是鉴定纯合子CAH胎儿的首选方法。产前治疗的目的是防止受影响的女性胎儿的外生殖器在子宫内男性化。因此，一旦确认怀孕，在进行产前诊断和核型分析之前，就立即给母亲口服地塞米松（每日3次，每次0.5毫克）。产前诊断结果出来后，只有当胎儿受影响且为女性时，才继续治疗直至足月。对女性CAH胎儿进行产前诊断和有效治疗大大减少了矫正手术的需求，从而有助于减轻准父母的焦虑，因此鼓励他们再次怀孕。然而，迄今为止，CAH的产前治疗仍然是一种实验性疗法[已修正]。
