{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T01:05:21Z","timestamp":1767834321259,"version":"3.49.0"},"reference-count":4,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T00:00:00Z","timestamp":1711584000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a 32\u2010year\u2010old G3P1 at 35\u00a0weeks 3\u00a0days with a dichorionic, diamniotic twin gestation who presented for evaluation secondary to ventriculomegaly (VM) in one twin. Fetal ultrasound and MRI demonstrated microcephaly, severe VM, compression of the corpus callosum, scalp and nuchal thickening, elongated ears, bilateral talipes, right\u2010sided congenital diaphragmatic hernia (CDH), and loss of normal cerebral architecture, indicative of a prior insult in the affected twin. The co\u2010twin was grossly normal. The family pursued a palliative care pathway for the affected twin and was delivered at 37\u00a0weeks and 6\u00a0days. The affected twin passed away within the first hour of life due to respiratory compromise. Postmortem trio exome sequencing identified a homozygous likely pathogenic variant in <jats:italic>ATP1A2<\/jats:italic> (c.2439+1G&gt;A). Although this variant is novel, it is predicted to affect the donor split site in intron 17, resulting in a frameshift and complete loss\u2010of\u2010function of the gene. Biallelic loss of function variants in this gene have been reported in seven individuals with multiple anomalies similar to those in the affected twin. However, only one other individual with a possible CDH has been previously reported. Our case suggests that CDH be included in the phenotypic spectrum of this disorder and reports the first frameshift mutation causing this autosomal recessive multiple congenital anomaly syndrome.<\/jats:p>","DOI":"10.1002\/pd.6560","type":"journal-article","created":{"date-parts":[[2024,3,29]],"date-time":"2024-03-29T04:44:20Z","timestamp":1711687460000},"page":"661-664","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Fetus with multiple congenital anomaly syndrome caused by novel variant in <i>ATP1A2<\/i>"],"prefix":"10.1002","volume":"44","author":[{"given":"Natalie","family":"Burrill","sequence":"first","affiliation":[{"name":"Children's Hospital of Philadelphia Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nahla","family":"Khalek","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment  Philadelphia Pennsylvania USA"},{"name":"Department of Surgery Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana G.","family":"Cristancho","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment  Philadelphia Pennsylvania USA"},{"name":"Department of Neurology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beverly","family":"Coleman","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment  Philadelphia Pennsylvania USA"},{"name":"Department of Clinical Radiology Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jill","family":"Murrell","sequence":"additional","affiliation":[{"name":"Division of Genomic Diagnostics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie S.","family":"Moldenhauer","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment  Philadelphia Pennsylvania USA"},{"name":"Department of Surgery Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,3,28]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073\u2010020\u20100712\u20100"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.01.014"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awz272"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab052"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6560","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,6]],"date-time":"2024-05-06T19:58:30Z","timestamp":1715025510000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6560"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,28]]},"references-count":4,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["10.1002\/pd.6560"],"URL":"https:\/\/doi.org\/10.1002\/pd.6560","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,28]]},"assertion":[{"value":"2023-11-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}