{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T06:31:40Z","timestamp":1763620300271},"reference-count":30,"publisher":"Walter de Gruyter GmbH","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,11,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpm-2017-0124_s_999_w2aab3b7c20b1b6b1aab1c16b1Aa\">\n                  <jats:title>Objective:<\/jats:title>\n                  <jats:p>The purpose of this study was to determine the frequency of non-immune hydrops fetalis (NIHF) among all pregnancies referred for prenatal care at Sultan Qaboos University Hospital (SQUH) during the study period and to evaluate the underlying etiologies of NIH.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpm-2017-0124_s_998_w2aab3b7c20b1b6b1aab1c16b2Aa\">\n                  <jats:title>Study design:<\/jats:title>\n                  <jats:p>All pregnancies referred to SQUH between February 2014 and December 2015 were identified, and all pregnancies meeting the diagnosis of NIHF were included in this study. All cases of NIHF referred to our center during this period underwent standard systematic diagnostic work-up that included biochemical and molecular studies in addition to the standard investigations for hydrops fetalis. Clinical characteristics and results of the diagnostic work-up were retrospectively reviewed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpm-2017-0124_s_997_w2aab3b7c20b1b6b1aab1c16b3Aa\">\n                  <jats:title>Results:<\/jats:title>\n                  <jats:p>A total of 3234 pregnancies were referred for prenatal care at SQUH during the study period, and 12 pregnancies were affected by NIHF. An underlying diagnosis was established in nine cases, and the majority of cases (7\/9) were caused by inborn errors of metabolism (IEM). These included a novel homozygous variant in the <jats:italic>AARS2<\/jats:italic> gene (5\/7) and two cases of galactosialidosis (2\/7).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpm-2017-0124_s_996_w2aab3b7c20b1b6b1aab1c16b4Aa\">\n                  <jats:title>Conclusion:<\/jats:title>\n                  <jats:p>IEM was a major cause of NIHF in this cohort. The <jats:italic>AARS2<\/jats:italic> variant accounts for a significant number of cases with NIHF in this cohort of Omani patients.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpm-2017-0124","type":"journal-article","created":{"date-parts":[[2017,8,21]],"date-time":"2017-08-21T13:12:36Z","timestamp":1503321156000},"page":"968-974","source":"Crossref","is-referenced-by-count":9,"title":["Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience"],"prefix":"10.1515","volume":"46","author":[{"given":"Zandr\u00e8","family":"Bruwer","sequence":"first","affiliation":[{"name":"Department of Genetics, Genetic and Developmental Medicine Clinic , Sultan Qaboos University Hospital , Muscat , Sultanate of Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nihal","family":"Al Riyami","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology , Sultan Qaboos University Hospital , Muscat , Sultanate of Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamima","family":"Al Dughaishi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology , Sultan Qaboos University Hospital , Muscat , Sultanate of Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fathiya","family":"Al Murshedi","sequence":"additional","affiliation":[{"name":"Department of Genetics, Genetic and Developmental Medicine Clinic , Sultan Qaboos University Hospital , Muscat , Sultanate of Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abeer","family":"Al Sayegh","sequence":"additional","affiliation":[{"name":"Department of Genetics, Genetic and Developmental Medicine Clinic , Sultan Qaboos University Hospital , Muscat , Sultanate of Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adila","family":"Al Kindy","sequence":"additional","affiliation":[{"name":"Department of Genetics, Genetic and Developmental Medicine Clinic , Sultan Qaboos University Hospital , Muscat , Sultanate of Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Douja","family":"Meftah","sequence":"additional","affiliation":[{"name":"Department of Genetics, Genetic and Developmental Medicine Clinic , Sultan Qaboos University Hospital , Muscat , Sultanate of Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalsa","family":"Al Kharusi","sequence":"additional","affiliation":[{"name":"Department of Genetics, Genetic and Developmental Medicine Clinic , Sultan Qaboos University Hospital , Muscat , Sultanate of Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amel","family":"Al Foori","sequence":"additional","affiliation":[{"name":"Department of Genetics, Genetic and Developmental Medicine Clinic , Sultan Qaboos University Hospital , Muscat , Sultanate of Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naeema","family":"Al Yarubi","sequence":"additional","affiliation":[{"name":"Department of Genetics , Sultan Qaboos University Hospital , Muscat , Sultanate of Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Scott","sequence":"additional","affiliation":[{"name":"Department of Genetics , Sultan Qaboos University Hospital , Muscat , Sultanate of Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalid","family":"Al-Thihli","sequence":"additional","affiliation":[{"name":"Department of Genetics, Genetic and Developmental Medicine Clinic , Sultan Qaboos University Hospital , Muscat , Sultanate of Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2017,8,19]]},"reference":[{"key":"2021021320254702134_j_jpm-2017-0124_ref_001_w2aab3b7c20b1b6b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"Potter EL. 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