Nivelon J L, Chouchane M, Forest M G, Morel Y, Huet F, Nivelon-Chevallier A, François C
Hôpital d'Enfants du Bocage, Dijon.
Ann Pediatr (Paris). 1993 Sep;40(7):421-5.
Prenatal treatment based on administration of dexamethasone to the mother during pregnancy was initiated early during nine pregnancies with a high risk of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. The purpose of this treatment was to prevent fetal virilization by reducing production of androgens by the adrenal glands. Prenatal diagnosis was achieved by comparing amniotic fluid cell HLA genotypes and more recently by subjecting trophoblasts to molecular genetic studies. Together with prenatal determination of fetal sex, this allowed to determine that only two female fetuses were affected. Efficacy of continued prenatal treatment in these two cases was good in one case and mediocre in the other. The treatment was well tolerated by the mothers and fetuses.
在9例因21-羟化酶缺乏而有先天性肾上腺皮质增生高风险的妊娠中，早期开始了基于孕期给母亲使用地塞米松的产前治疗。这种治疗的目的是通过减少肾上腺雄激素的产生来预防胎儿男性化。产前诊断通过比较羊水细胞HLA基因型来实现，最近则通过对滋养层进行分子遗传学研究来完成。结合产前确定胎儿性别，这使得能够确定只有两名女胎受到影响。在这两例中，持续产前治疗的效果在一例中良好，在另一例中一般。母亲和胎儿对该治疗耐受性良好。
