First-trimester fetal nuchal translucency and inherited metabolic disorders

Pierangela De Biasio, Federico Prefumo, Valentina Casagrande, Marina Stroppiano, Pier Luigi Venturini, Mirella Filocamo

Research output: Contribution to journalArticlepeer-review


Objectives: 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. Conclusion: 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.

Original languageEnglish
Pages (from-to)77-80
Number of pages4
JournalPrenatal Diagnosis
Issue number1
Publication statusPublished - Jan 2006


  • Inherited metabolic disorders
  • Nuchal translucency
  • Storage disorders

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology


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