Fast protocol for the diagnosis of lysosomal diseases in nonimmune hydrops fetalis

• Published in: Prenatal diagnosis Vol. 32; no. 12; pp. 1139 - 1142
• Main Authors: Gort, Laura, Granell, M. Reyes, Fernández, Gema, Carreto, Práxedes, Sanchez, Aurora, Coll, M. José
• Format: Journal Article
• Language: English
• Published: England Blackwell Publishing Ltd 01.12.2012; Wiley Subscription Services, Inc
• Subjects: Adult; Amniotic Fluid - chemistry; Amniotic Fluid - cytology; Amniotic Fluid - metabolism; Female; Gaucher Disease - complications; Gaucher Disease - diagnosis; Gaucher Disease - diagnostic imaging; Humans; Hydrops Fetalis - diagnosis; Hydrops Fetalis - epidemiology; Hydrops Fetalis - etiology; Hydrops Fetalis - metabolism; Lysosomal Storage Diseases - complications; Lysosomal Storage Diseases - diagnosis; Lysosomal Storage Diseases - epidemiology; Pregnancy; Prenatal Diagnosis - methods; Time Factors; Ultrasonography
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/pd.3972

ABSTRACT Objective Nonimmune hydrops fetalis (NIHF) is defined by the excessive fluid accumulation in more than one foetal compartments and body cavities because of nonimmune reasons. It has been described that 14 lysosomal diseases may be causative of NIHF. The aim of this study was to design a fast protocol to investigate the most frequent lysosomal diseases that are reported that may cause NIHF. Method We analysed the glycosaminoglycans excretion in the amniotic fluid supernatant and four different lysosomal enzymatic activities in the amniotic cultured cells of the different NIHF amniotic fluids we received. Results We investigated 30 NIHF cases, using this fast protocol. We detected two cases of NIHF because of lysosomal diseases, which represent 6.6%. We diagnosed one case of mucopolysaccharidosis type VII and one case of Gaucher disease. Conclusion The fast protocol we designed analyses seven of the most frequent lysosomal pathologies that have been described that may cause NIHF, with only five different determinations, which make the analysis of NIHF fast, cost‐effective and without need of too much amniotic fluid. We believe this protocol may be useful for the analysis of lysosomal diseases in NIHF. © 2012 John Wiley & Sons, Ltd.