New developments in prenatal diagnosis of congenital adrenal hyperplasia

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• 作者：Diya Kazmi¹ ; Jack Bailey¹ ; Maggie Yau ; Wahid Abu-Amer ; Ameet Kumar ; Merly Low ; Tony Yuen ; ^{tony.yuen@mssm.edu}
• 关键词：Next generation sequencing ; Targeted massively parallel sequencing ; Noninvasive prenatal testing ; NIPT ; Autosomal recessive disorders
• 刊名：The Journal of Steroid Biochemistry and Molecular Biology
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：165
• 期：part_PA
• 页码：121-123
• 全文大小：251 K
• 卷排序：165

文摘

Dexamethasone treatment before 9 gestational weeks prevents virilization in females affected with classical CAH. Prenatal dexamethasone treatment has little to no adverse side effects. Noninvasive methods using fetal DNA from maternal blood have been developed for early prenatal genetic testing. Early noninvasive prenatal genetic testing avoids prescription of dexamethasone to mothers carrying male or unaffected female fetuses.