The importance and implications of preconception genetic testing for accurate fetal risk estimation in 21-hydroxylase congenital adrenal hyperplasia (CAH)

Abstract

Preconception genetic testing should be offered to all patients with 21-hydroxylase congenital adrenal hyperplasia. We report how the preconception genetic testing of a lady and her partner dramatically changed the estimated risk to their offspring and the major implications the results had on pregnancy planning. The risk of conceiving a female fetus with congenital adrenal hyperplasia brings in considerations of prenatal dexamethasone therapy and prenatal diagnosis. We also highlight the differences between genetic testing on a research and clinical basis.

摘要

所有因21-羟化酶缺乏导致先天性肾上腺皮质增生的患者应行孕前基因检测。我们报道了一位女士及其伴侣的孕前基因检测如何显著改变其后代的风险估计以及该结果对计划妊娠的主要影响。先天性肾上腺皮质增生的患者孕女性胎儿的风险中应考虑对其行产前地塞米松治疗和产前诊断。我们还强调了基因检测在研究和临床上的差异。

Keywords:

• Congenital adrenal hyperplasia
• preconception genetic testing
• 21-hydroxylase deficiency

Disclosure statement

No potential conflict of interest was reported by the authors.