Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

We describe the utilization of cell-free fetal DNA in mothers carrying at-risk fetuses as early as 6 gestational weeks by targeted massively parallel sequencing of the genomic region including and flanking the CYP21A2 gene. Our highly personalized and innovative approach should permit the diagnosis of CAH before genital development begins, therefore restricting the purposeful administration of dexamethasone to mothers carrying affected females.
PMID: 26683339 [PubMed - in process]

Source: Endocrine Development - December 21, 2015 Category: Endocrinology Authors: Khattab A, Yuen T, Sun L, Yau M, Barhan A, Zaidi M, Lo YM, New MI Tags: Endocr Dev Source Type: research