{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:52:57Z","timestamp":1790419977792,"version":"4.1.0"},"reference-count":11,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2012,9,18]],"date-time":"2012-09-18T00:00:00Z","timestamp":1347926400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>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\u2010effective and without need of too much amniotic fluid. We believe this protocol may be useful for the analysis of lysosomal diseases in NIHF. \u00a9 2012 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.3972","type":"journal-article","created":{"date-parts":[[2012,9,19]],"date-time":"2012-09-19T03:51:25Z","timestamp":1348026685000},"page":"1139-1142","source":"Crossref","is-referenced-by-count":29,"title":["Fast protocol for the diagnosis of lysosomal diseases in nonimmune hydrops fetalis"],"prefix":"10.1002","volume":"32","author":[{"given":"Laura","family":"Gort","sequence":"first","affiliation":[{"name":"Secci\u00f3 Errors Cong\u00e8nits del Metabolisme\u2010IBC, Serv. Bioqu\u00edmica i Gen\u00e8tica Molecular Hospital Cl\u00ednic, Barcelona  Barcelona Spain"},{"name":"CIBERER  Barcelona Spain"},{"name":"IDIBAPS  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Reyes","family":"Granell","sequence":"additional","affiliation":[{"name":"Unidad de Diagn\u00f3stico Prenatal, Servicio de Obstetricia y Ginecolog\u00eda Hospital Juan Ram\u00f3n Jim\u00e9nez  Huelva Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gema","family":"Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Laboratorio de An\u00e1lisis Cl\u00ednicos Hospital Juan Ram\u00f3n Jim\u00e9nez  Huelva Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pr\u00e1xedes","family":"Carreto","sequence":"additional","affiliation":[{"name":"Unidad de Diagn\u00f3stico Prenatal, Servicio de Obstetricia y Ginecolog\u00eda Hospital Juan Ram\u00f3n Jim\u00e9nez  Huelva Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurora","family":"Sanchez","sequence":"additional","affiliation":[{"name":"Secci\u00f3 Citogen\u00e8tica, Serv. Bioqu\u00edmica i Gen\u00e8tica Molecular Hospital Cl\u00ednic  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Jos\u00e9","family":"Coll","sequence":"additional","affiliation":[{"name":"Secci\u00f3 Errors Cong\u00e8nits del Metabolisme\u2010IBC, Serv. Bioqu\u00edmica i Gen\u00e8tica Molecular Hospital Cl\u00ednic, Barcelona  Barcelona Spain"},{"name":"CIBERER  Barcelona Spain"},{"name":"IDIBAPS  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,9,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32655"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050603"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1053\/siny.2001.0088"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-0635"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(77)90466-1"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80968-1"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-9861(76)90547-6"},{"key":"e_1_2_7_9_1","volume-title":"Globoid cell leukodystrophy (Krabbe Disease) and GM1 gangliosidosis","author":"Suzuki K.","year":"1977"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb01066.x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.967"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2006.03.007"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.3972","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.3972","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.3972","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T17:22:15Z","timestamp":1698686535000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.3972"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9,18]]},"references-count":11,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["10.1002\/pd.3972"],"URL":"https:\/\/doi.org\/10.1002\/pd.3972","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,9,18]]}}}