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Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

Abstract
A major hallmark of classical congenital adrenal hyperplasia (CAH) is genital ambiguity noted at birth in affected females, which leads to psychological and psychosexual issues in adult life. Attempts to correct genital ambiguity through surgical intervention have been partially successful. Fetal hyperandrogenemia and genital ambiguity have been shown to be preventable by prenatal administration of low-dose dexamethasone initiated before the 9th week of gestation. In 7 of 8 at-risk pregnancies, the unaffected fetus is unnecessarily exposed to dexamethasone for weeks until the diagnosis of classical CAH is ruled out by invasive procedures. This therapeutic dilemma calls for early prenatal diagnosis so that dexamethasone treatment can be directed to affected female fetuses only. 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.
AuthorsAhmed Khattab, Tony Yuen, Li Sun, Mabel Yau, Ariella Barhan, Mone Zaidi, Y M Dennis Lo, Maria I New
JournalEndocrine development (Endocr Dev) Vol. 30 Pg. 37-41 ( 2016) ISSN: 1662-2979 [Electronic] Switzerland
PMID26683339 (Publication Type: Journal Article, Review)
Copyright© 2016 S. Karger AG, Basel.
Chemical References
  • CYP21A2 protein, human
  • Steroid 21-Hydroxylase
Topics
  • Adrenal Hyperplasia, Congenital (diagnosis, genetics)
  • Disorders of Sex Development (diagnosis, genetics)
  • Female
  • Fetal Diseases (diagnosis, genetics)
  • Humans
  • Pregnancy
  • Prenatal Diagnosis (methods)
  • Steroid 21-Hydroxylase (genetics)

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