{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T01:58:53Z","timestamp":1790215133914,"version":"4.1.0"},"reference-count":37,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2004,8,9]],"date-time":"2004-08-09T00:00:00Z","timestamp":1092009600000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2004,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To investigate lysosomal storage diseases (LSD) in cases of nonimmune hydrops fetalis (NIHF).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Thirty\u2010three 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In our sample, we detected five patients (15%) with LSD, each patient having one of the following diseases: mucolipidosis, Niemann\u2013Pick disease, galactosialidosis, sialidosis and mucopolysaccharidosis type IV A.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>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 \u00a9 2004 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.967","type":"journal-article","created":{"date-parts":[[2004,8,9]],"date-time":"2004-08-09T22:40:18Z","timestamp":1092091218000},"page":"653-657","source":"Crossref","is-referenced-by-count":77,"title":["Investigation of lysosomal storage diseases in nonimmune hydrops fetalis"],"prefix":"10.1002","volume":"24","author":[{"given":"Maira G.","family":"Burin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana P.","family":"Scholz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rejane","family":"Gus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Teresa V.","family":"Sanseverino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Fritsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 A.","family":"Magalh\u00e3es","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernanda","family":"Timm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patr\u00edcia","family":"Barrios","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marisa","family":"Chesky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janice C.","family":"Coelho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,8,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80968-1"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.73"},{"key":"e_1_2_1_4_1","first-page":"227","article-title":"Lysosomal storage diseases presenting as transient or persistent hydrops fetalis","volume":"2","author":"Bonduelle M","year":"1991","journal-title":"Genet Couns"},{"key":"e_1_2_1_5_1","first-page":"277","article-title":"Diagnosis of lysosomal storage diseases with fetal presentation","volume":"17","author":"Bouvier R","year":"1997","journal-title":"Ann Pathol"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005546501043"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/38.6.803"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.2000.00148.x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1080\/22953337.1996.11718526"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.330"},{"key":"e_1_2_1_11_1","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.5858\/2003-127-1051-PQCADB","article-title":"Pathologic quiz case: a 5\u2010day\u2010old boy with hydrops fetalis. 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