{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:51:28Z","timestamp":1786978288209,"version":"build-2736575974"},"reference-count":22,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,3,20]],"date-time":"2020-03-20T00:00:00Z","timestamp":1584662400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["NICHD K23 HD088742"],"award-info":[{"award-number":["NICHD K23 HD088742"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Nonimmune hydrops fetalis (NIHF) accounts for 90% of hydrops fetalis cases. About 15% to 29% of unexplained NIHF cases are caused by lysosomal storage diseases (LSD). We review the spectrum of LSD and associated clinical findings in NIHF in a cohort of patients referred to our institution.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We present a retrospective case\u2010control study of cases with NIHF referred for LSD biochemical testing at a single center. Cases diagnosed with LSD were matched to controls with NIHF and negative LSD testing and analyzed according to the STROBE criteria to the extent the retrospective nature of this study allowed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Between January 2006 and December 2018, 28 patients with NIHF were diagnosed with a LSD. Eight types of LSD were diagnosed: galactosialidosis 8\/28 (28.6%), sialic acid storage disease (SASD) 5\/28 (17.9%), mucopolysaccharidosis VII 5\/28 (17.9%), Gaucher 4\/28 (14.3%), sialidosis 2\/28 (7.1%), GM1 gangliosidosis 2\/28 (7.1%), Niemann\u2010Pick disease type C 1\/28 (3.6%), and mucolipidosis II\/III 1\/28 (3.6%). Associated clinical features were hepatomegaly 16\/21 (76.2%) vs 22\/65 (33.8%),\n                      <jats:italic>P<\/jats:italic>\n                      \u2009&lt;\u2009.05, splenomegaly 12\/20 (60.0%) vs 14\/58 (24.1%),\n                      <jats:italic>P<\/jats:italic>\n                      \u2009&lt;\u2009.05, and hepatosplenomegaly 10\/20 (50.0%) vs 13\/58 (22.4%)\n                      <jats:italic>P<\/jats:italic>\n                      \u2009&lt;\u2009.05.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The most common LSD in NIHF were galactosialidosis, SASD, mucopolysaccharidosis VII, and Gaucher disease. LSD should be considered in unexplained NIHF cases, particularly if hepatomegaly, splenomegaly, or hepatosplenomegaly is visualized on prenatal ultrasound.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.5678","type":"journal-article","created":{"date-parts":[[2020,3,5]],"date-time":"2020-03-05T09:51:25Z","timestamp":1583401885000},"page":"738-745","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study"],"prefix":"10.1002","volume":"40","author":[{"given":"Huda B.","family":"Al\u2010Kouatly","sequence":"first","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine, Department of Obstetrics and Gynecology Sidney Kimmel Medical College of Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0505-9047","authenticated-orcid":false,"given":"Laura","family":"Felder","sequence":"additional","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine, Department of Obstetrics and Gynecology Sidney Kimmel Medical College of Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona M.","family":"Makhamreh","sequence":"additional","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine, Department of Obstetrics and Gynecology Sidney Kimmel Medical College of Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie L.","family":"Kass","sequence":"additional","affiliation":[{"name":"Sidney Kimmel Medical College of Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neeta L.","family":"Vora","sequence":"additional","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine, Department of Obstetrics and Gynecology University of North Carolina School of Medicine  Chapel Hill North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0163-3032","authenticated-orcid":false,"given":"Vincenzo","family":"Berghella","sequence":"additional","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine, Department of Obstetrics and Gynecology Sidney Kimmel Medical College of Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seth","family":"Berger","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine Research\/Rare Disease Institute, Children's National Medical Center  Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Wenger","sequence":"additional","affiliation":[{"name":"Lysosomal Diseases Testing Laboratory Sidney Kimmel Medical College of Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Luzi","sequence":"additional","affiliation":[{"name":"Lysosomal Diseases Testing Laboratory Sidney Kimmel Medical College of Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,3,20]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.12.018"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-86"},{"issue":"2","key":"e_1_2_10_4_1","first-page":"256","article-title":"Antenatal classification of hydrops fetalis","volume":"79","author":"Santolaya J","year":"1992","journal-title":"Obstet Gynecol"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.967"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.10.007"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(95)06250-5"},{"key":"e_1_2_10_8_1","first-page":"409","article-title":"Hydrops fetalis: lysosomal storage disorders in extremis","volume":"46","author":"Stone DL","year":"1999","journal-title":"Adv Pediatr Infect Dis"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-147-8-200710160-00010-w1"},{"key":"e_1_2_10_10_1","first-page":"587","volume-title":"Screening for lysosomal disorders, in Techniques in Diagnostic Human Biochemical Genetics. 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