Speiser P W, Laforgia N, Kato K, Pareira J, Khan R, Yang S Y, Whorwood C, White P C, Elias S, Schriock E
Department of Pediatrics, New York Hospital-Cornell Medical Center, New York 10021.
J Clin Endocrinol Metab. 1990 Apr;70(4):838-48. doi: 10.1210/jcem-70-4-838.
Prenatal treatment of pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency was carried out in conjunction with chorionic villus sampling (CVS) in the first trimester for analysis of restriction fragment length polymorphisms. Fourteen families of a total of 49 families at risk for this disease elected to undergo both prenatal treatment and diagnosis via CVS. Dexamethasone administration to the pregnant woman was initiated at a mean gestational age of 7 weeks (range, 4-10 weeks) before testing to determine whether the fetus was affected with 21-hydroxylase deficiency, and CVS was performed at a gestational age of 8-10 weeks. Two affected female fetuses were identified by molecular genetic techniques among this group; neonatal physical examination demonstrated amelioration of the degree of genital ambiguity compared with both nonprenatally treated older sisters with 21-hydroxylase deficiency. The duration of unnecessary prenatal dexamethasone treatment for unaffected or male fetuses was substantially reduced in the CVS group compared with that in a cohort of 8 prenatally treated pregnancies in which amniocentesis was performed in the early second trimester. There were no major morbidities observed in the treated pregnancies. Postnatal confirmation of CVS diagnosis was obtained in all cases in which DNA from an affected sibling was available for comparative analysis with the DNA from chorionic villus tissue. We conclude based on these data that the benefit/risk ratio is favorable for prenatal administration of dexamethasone in pregnancies at risk for 21-hydroxylase deficiency. Treatment should be initiated during the first trimester in conjunction with diagnosis by CVS/molecular genetic techniques. Long term postnatal surveillance is recommended for all offspring of dexamethasone-treated pregnancies.
对于因21-羟化酶缺乏而有先天性肾上腺皮质增生风险的妊娠，在孕早期结合绒毛取样（CVS）进行产前治疗，以分析限制性片段长度多态性。49个有此病风险的家庭中，有14个家庭选择同时接受产前治疗和通过CVS进行诊断。在检测以确定胎儿是否受21-羟化酶缺乏影响之前，于平均孕龄7周（范围4 - 10周）开始对孕妇给予地塞米松，CVS在孕龄8 - 10周时进行。在该组中通过分子遗传学技术鉴定出2名受影响的女胎；新生儿体格检查显示，与两名未接受产前治疗的患21-羟化酶缺乏的姐姐相比，生殖器模糊程度有所改善。与一组在孕中期早期进行羊膜穿刺术的8例接受产前治疗的妊娠相比，CVS组中未受影响或男胎不必要的产前地塞米松治疗时间大幅缩短。在接受治疗的妊娠中未观察到重大并发症。在所有有患病同胞的DNA可用于与绒毛组织DNA进行比较分析的病例中，均获得了CVS诊断的产后确认。基于这些数据我们得出结论，对于有21-羟化酶缺乏风险的妊娠，产前给予地塞米松的获益/风险比是有利的。治疗应在孕早期结合CVS/分子遗传学技术诊断开始。建议对接受地塞米松治疗的妊娠的所有后代进行长期产后监测。
