title: Fast protocol for the diagnosis of lysosomal diseases in nonimmune hydrops fetalis.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Secció Errors Congènits del Metabolisme-IBC, Serv. Bioquímica i Genètica Molecular, Hospital Clínic, Barcelona, Barcelona, Spain lgort@clinic.ub.es
authors.forename: Laura
authors.initials: L
authors.lastname: Gort
authors.forename: M Reyes
authors.initials: MR
authors.lastname: Granell
authors.forename: Gema
authors.initials: G
authors.lastname: Fernández
authors.forename: Práxedes
authors.initials: P
authors.lastname: Carreto
authors.forename: Aurora
authors.initials: A
authors.lastname: Sanchez
authors.forename: M José
authors.initials: MJ
authors.lastname: Coll
mesh_terms: D000328:Adult; D000653:Amniotic Fluid / Q000737:chemistry / Q000166:cytology / Q000378:metabolism; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000175:diagnosis / Q000000981:diagnostic imaging; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis* / Q000453:epidemiology / Q000209:etiology* / Q000378:metabolism; D016464:Lysosomal Storage Diseases / Q000150:complications* / Q000175:diagnosis* / Q000453:epidemiology; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D013997:Time Factors; D014463:Ultrasonography