title: First-trimester fetal nuchal translucency and inherited metabolic disorders.
abstract: OBJECTIVE
  To assess the association between inherited metabolic disorders and nuchal translucency (NT) measurements.
  
  
  METHODS
  The NT measurements obtained from 66 fetuses at high risk for metabolic diseases prior to chorionic villus sampling (CVS) were retrospectively analysed.
  
  
  RESULTS
  NT was found to be within the normal range in all of the 13 affected fetuses, which included three with Gaucher disease, two with glycogenosis type II, two with mucopolysaccharidosis type I and six others with Krabbe disease, metachromatic leukodystrophy, mucopolysaccharidosis type II, Niemann-Pick A disease, Pelizaeus-Merzbacher disease and sialidosis, respectively. An increased nuchal thickness was found only in one fetus affected with trisomy 21 but not affected with mucopolysaccharidosis type II.
  
  
  CONCLUSIONS
  NT appears to have a limited role in identifying affected fetuses in pregnancies at high risk for inherited metabolic disorders. NT may be normal in early pregnancy even for fetuses affected with conditions known to be associated with non-immune hydrops fetalis.
authors.affiliation: U.O. Ostetricia e Ginecologia, Istituto G. Gaslini, Università di Genova, Genova, Italy. bnhdeb@tin.it
authors.forename: Pierangela
authors.initials: P
authors.lastname: De Biasio
authors.forename: Federico
authors.initials: F
authors.lastname: Prefumo
authors.forename: Valentina
authors.initials: V
authors.lastname: Casagrande
authors.forename: Marina
authors.initials: M
authors.lastname: Stroppiano
authors.forename: Pier Luigi
authors.initials: PL
authors.lastname: Venturini
authors.forename: Mirella
authors.initials: M
authors.lastname: Filocamo
mesh_terms: D000328:Adult; D004314:Down Syndrome / Q000000981:diagnostic imaging / Q000196:embryology; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000000981:diagnostic imaging* / Q000196:embryology; D009333:Neck / Q000000981:diagnostic imaging* / Q000196:embryology; D011237:Predictive Value of Tests; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D016216:Ultrasonography, Prenatal