{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T08:08:53Z","timestamp":1753862933545,"version":"3.41.2"},"reference-count":13,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T00:00:00Z","timestamp":1692748800000},"content-version":"vor","delay-in-days":22,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Key Clinical Message<\/jats:title><jats:p>Non\u2010immune hydrops is a prenatal finding which can occur due to an underlying genetic diagnosis such as common chromosomal aneuploidy (Trisomy 21, Turner syndrome etc.). It is extremely rare to have more than one genetic cause of hydrops fetalis in a single pregnancy. This report describes a dichorionic diamniotic pregnancy for a consanguineous couple where noninvasive prenatal testing was \u201chigh risk\u201d for Trisomy 21. Family declined amniocentesis and opted for postnatal genetic testing. The pregnancy was later complicated with severe hydrops fetalis leading to demise for one of the twins, and a premature delivery of the other twin who had remarkable collodion not in keeping with Trisomy 21. Postnatal genetic investigations confirmed both Trisomy 21 and prenatal lethal Gaucher disease in the survivor twin. This case report highlights some of the prenatal diagnostic challenges for a consanguineous couple where a rare cause of fetal hydrops was concealed in a setting of a common chromosomal aneuploidy. The prompt postnatal diagnosis of perinatal lethal Gaucher disease, confirmed with undetectable glucocerebrosidase enzyme activity, assisted the family in the decision of providing palliative care for their infant who was quickly deteriorating. The importance of postnatal genetic evaluation and its impact on immediate patient management in an NICU setting is emphasized. This dual diagnosis was significant for the couple as it explained pervious pregnancy losses and has important future recurrence risk implications.<\/jats:p>","DOI":"10.1002\/ccr3.7827","type":"journal-article","created":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T04:25:50Z","timestamp":1692851150000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non\u2010immune hydrops fetalis in a twin pregnancy for a consanguineous couple"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9903-6251","authenticated-orcid":false,"given":"Talib","family":"Al\u00a0Harthy","sequence":"first","affiliation":[{"name":"Schulich School of Medicine and Dentistry Western University  London Ontario Canada"},{"name":"Division of Pediatric Neonatology, Department of Pediatrics London Health Sciences Center  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samantha","family":"Colaiacovo","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Pediatrics London Health Sciences Center  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert J.","family":"Gratton","sequence":"additional","affiliation":[{"name":"Schulich School of Medicine and Dentistry Western University  London Ontario Canada"},{"name":"Department of Obstetrics &amp; Gynecology London Health Sciences Center  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kevin","family":"Coughlin","sequence":"additional","affiliation":[{"name":"Schulich School of Medicine and Dentistry Western University  London Ontario Canada"},{"name":"Division of Pediatric Neonatology, Department of Pediatrics London Health Sciences Center  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria Mok","family":"Siu","sequence":"additional","affiliation":[{"name":"Schulich School of Medicine and Dentistry Western University  London Ontario Canada"},{"name":"Division of Clinical Genetics, Department of Pediatrics London Health Sciences Center  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chitra","family":"Prasad","sequence":"additional","affiliation":[{"name":"Schulich School of Medicine and Dentistry Western University  London Ontario Canada"},{"name":"Division of Clinical Genetics, Department of Pediatrics London Health Sciences Center  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles","family":"Rupar","sequence":"additional","affiliation":[{"name":"Schulich School of Medicine and Dentistry Western University  London Ontario Canada"},{"name":"Department of Pathology and Laboratory Medicine London Health Sciences Center  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maha","family":"Saleh","sequence":"additional","affiliation":[{"name":"Schulich School of Medicine and Dentistry Western University  London Ontario Canada"},{"name":"Division of Clinical Genetics, Department of Pediatrics London Health Sciences Center  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,8,23]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0412.2000.079001015.x"},{"issue":"3","key":"e_1_2_11_3_1","first-page":"347","article-title":"Nonimmunologic hydrops fetalis: a review of 61 cases","volume":"59","author":"Hutchison AA","year":"1982","journal-title":"Obstet Gynecol"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.2174\/1573396314666180820154340"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0412.2001.080008726.x"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32655"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.12.018"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jogc.2017.01.032"},{"issue":"8","key":"e_1_2_11_9_1","first-page":"8","article-title":"Fetal aneuploidy:screening and diagnostic testing","volume":"101","author":"LeFevre NM","year":"2020","journal-title":"Am Fam Physician"},{"key":"e_1_2_11_10_1","unstructured":"Non\u2010immune hydrops fetalis panel test \u2010 preventiongenetics.https:\/\/www.preventiongenetics.com\/testInfo?val=Non%252DImmune\u2010Hydrops\u2010Fetalis\u2010Panel"},{"key":"e_1_2_11_11_1","unstructured":"The fetal medicine foundation.https:\/\/fetalmedicine.org\/education\/fetal\u2010abnormalities\/chromosomal\u2010defects\/features"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.3928\/0147-7447-19950501-05"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.2001.00384.x"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970080612"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.7827","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T05:39:04Z","timestamp":1692855544000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.7827"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8]]},"references-count":13,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["10.1002\/ccr3.7827"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.7827","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"type":"print","value":"2050-0904"},{"type":"electronic","value":"2050-0904"}],"subject":[],"published":{"date-parts":[[2023,8]]},"assertion":[{"value":"2023-03-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-09","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e7827"}}