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  • Congenital adrenal hyperplasia ( 21-hydroxylase deficiency) Relevant markers:
    Nuchal edema/fold/Increased nuchal translucency (NT)/cystic hygroma
    Parents markers:
    Ambiguous genitalia
      Incidence:1/10000 — -
      Inheritance mode:AR
      Other antenatal testing: mutation in the CYP21A2 gene located on chromosome 6p21.3
      Other online databases:OMIM
      References:
      2013 Eur J Obstet Gynecol Reprod Biol Read on PubMed
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