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
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/pd.967

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 detection of LSD were performed. Results In our sample, we detected five patients (15%) with LSD, each patient having one of the following diseases: mucolipidosis, Niemann–Pick disease, galactosialidosis, sialidosis and mucopolysaccharidosis type IV A. Conclusion Although LSDs are rare disorders as a group, they should be considered as a possible cause of NIHF, even in the absence of consanguinity or of a previous family history. By excluding the more frequent causes of NIHF, an LSD investigation assists in clarifying the etiology of many hydropic cases, making more appropriate genetic counseling for parents possible. Copyright © 2004 John Wiley & Sons, Ltd.