title: New developments in prenatal diagnosis of congenital adrenal hyperplasia.
abstract: Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations in the CYP21A2 gene. Females affected with classical CAH are at risk for genital ambiguity, but can be treated in utero with dexamethasone before 9 gestational weeks to prevent virilization. Early genetic diagnosis is unavailable through current invasive methods of chorionic villus sampling and amniocentesis. New developments in prenatal genetic testing utilize fetal DNA extracted from maternal blood through noninvasive methods, which allow the determination of fetal gender and the diagnosis of CAH at an early gestational age (<9 weeks). Noninvasive prenatal diagnosis allows for the establishment of early and effective management plans in fetuses at risk for CAH and avoids unnecessary prenatal dexamethasone treatment.
authors.affiliation: Department of Medicine, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1055, New York, NY 10029, USA.
authors.forename: Diya
authors.initials: D
authors.lastname: Kazmi
authors.affiliation: Department of Medicine, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1055, New York, NY 10029, USA.
authors.forename: Jack
authors.initials: J
authors.lastname: Bailey
authors.affiliation: Department of Medicine, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1055, New York, NY 10029, USA.
authors.forename: Maggie
authors.initials: M
authors.lastname: Yau
authors.affiliation: Department of Medicine, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1055, New York, NY 10029, USA.
authors.forename: Wahid
authors.initials: W
authors.lastname: Abu-Amer
authors.affiliation: Department of Medicine, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1055, New York, NY 10029, USA.
authors.forename: Ameet
authors.initials: A
authors.lastname: Kumar
authors.affiliation: Department of Medicine, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1055, New York, NY 10029, USA.
authors.forename: Merly
authors.initials: M
authors.lastname: Low
authors.affiliation: Department of Medicine, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1055, New York, NY 10029, USA. Electronic address: tony.yuen@mssm.edu.
authors.forename: Tony
authors.initials: T
authors.lastname: Yuen
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000235:genetics*; D004247:DNA / Q000032:analysis / Q000097:blood; D003907:Dexamethasone / Q000627:therapeutic use; D005260:Female; D005808:Genes, Recessive; D005865:Gestational Age; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014770:Virilism / Q000517:prevention & control
chemical_list: D003907:Dexamethasone; D004247:DNA
keywords: Autosomal recessive disorders; NIPT; Next generation sequencing; Noninvasive prenatal testing; Targeted massively parallel sequencing