Investigation of lysosomal storage diseases in nonimmune hydrops fetalis

• Published in: Prenatal diagnosis Vol. 24; no. 8; pp. 653 - 657
• Main Authors: Burin, Maira G., Scholz, Ana P., Gus, Rejane, Sanseverino, Maria Teresa V., Fritsh, Alessandra, Magalhães, José A., Timm, Fernanda, Barrios, Patrícia, Chesky, Marisa, Coelho, Janice C., Giugliani, Roberto
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 01.08.2004; Wiley
• Subjects: Adult; Biological and medical sciences; Birth control; Diseases of mother, fetus and pregnancy; Female; fetal ascites; genetic counseling; Gynecology. Andrology. Obstetrics; Hormonal contraception; Humans; Hydrops Fetalis - etiology; lysosomal storage disease; Lysosomal Storage Diseases - complications; Medical sciences; Mucolipidoses - complications; Mucopolysaccharidosis IV - complications; Niemann-Pick Diseases - complications; nonimmune hydrops fetalis; nuchal translucency; Pregnancy; Pregnancy. Fetus. Placenta; Effusion; Pregnancy disorders; fetal ascites; Lysosomal storage disease; nonimmune hydrops fetalis; Prenatal; Fetal diseases; Genetic counseling; Hydrops fetalis; Abdominal disease; Nuchal translucency; Diagnosis; Ascites

Objective To investigate lysosomal storage diseases (LSD) in cases of nonimmune hydrops fetalis (NIHF). Methods Thirty‐three cases of NIHF were investigated, 28 in the prenatal period and 5 in hydropic newborns. In addition to a general investigation for NIHF, specific enzymatic analyses for the det...