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Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study.

Huda B Al-KouatlyLaura FelderMona M MakhamrehStephanie L KassNeeta L VoraVincenzo BerghellaSeth BergerDavid A WengerPaola Luzi
Published in: Prenatal diagnosis (2020)
The most common LSD in NIHF were galactosialidosis, SASD, mucopolysaccharidosis VII, and Gaucher disease. LSD should be considered in unexplained NIHF cases, particularly if hepatomegaly, splenomegaly, or hepatosplenomegaly is visualized on prenatal ultrasound.
Keyphrases
  • replacement therapy
  • magnetic resonance imaging
  • pregnant women
  • computed tomography
  • smoking cessation