{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:49:27Z","timestamp":1747151367127,"version":"3.40.5"},"reference-count":8,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,6,21]],"date-time":"2023-06-21T00:00:00Z","timestamp":1687305600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a case of a twin\u2010twin transfusion syndrome (TTTS) recipient who, after successful fetoscopic surgery, developed a large pericardial effusion and calcifications of the aorta and main pulmonary artery. The donor fetus never had cardiac strain and never developed cardiac calcifications. A heterozygous likely pathogenic variant in <jats:italic>ABCC6<\/jats:italic> (c.2018T\u00a0&gt;\u00a0C, p.Leu673Pro) was identified in the recipient twin. While TTTS recipient twins are at risk of arterial calcifications and right heart failure secondary to the disease, calcifications of the great vessels are also observed in generalized arterial calcification of infancy, a Mendelian genetic disorder with associated biallelic pathogenic variations in <jats:italic>ABCC6<\/jats:italic> or <jats:italic>ENPP1<\/jats:italic>, which can result in significant pediatric morbidity or mortality. The recipient twin in this case had some degree of cardiac strain prior to TTTS surgery; however, the progressive calcification of the aorta and pulmonary trunk occurred weeks after TTTS resolution. This case raises the possibility of a gene\u2010environment interaction and emphasizes the need for genetic evaluation in the setting of TTTS and calcifications.<\/jats:p>","DOI":"10.1002\/pd.6396","type":"journal-article","created":{"date-parts":[[2023,6,13]],"date-time":"2023-06-13T04:50:28Z","timestamp":1686631828000},"page":"1092-1095","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Twin\u2010twin transfusion syndrome recipient with arterial calcification and heterozygous variant in <i>ABCC6<\/i>: Evidence of a gene\u2010environment interaction?"],"prefix":"10.1002","volume":"43","author":[{"given":"Andrea","family":"Springman","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8001-1444","authenticated-orcid":false,"given":"Braxton","family":"Forde","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University of Cincinnati College of Medicine  Cincinnati Ohio USA"},{"name":"Fetal Care Center Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leandra","family":"Tolusso","sequence":"additional","affiliation":[{"name":"Fetal Care Center Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Medical Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily","family":"DeFranco","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel T.","family":"Swarr","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Division of Neonatology &amp; Pulmonary Biology Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. Deah","family":"Wright","sequence":"additional","affiliation":[{"name":"Fetal Care Center Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mounira","family":"Habli","sequence":"additional","affiliation":[{"name":"Fetal Care Center Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Obstetrics and Gynecology Good Samaritan Hospital  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,6,21]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/323704"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-010-0518-0"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/14.6.1614"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0142458"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-018-4639-x"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951116001979"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000444852"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6396","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,18]],"date-time":"2023-08-18T08:29:12Z","timestamp":1692347352000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6396"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,21]]},"references-count":8,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2023,7]]}},"alternative-id":["10.1002\/pd.6396"],"URL":"https:\/\/doi.org\/10.1002\/pd.6396","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"type":"print","value":"0197-3851"},{"type":"electronic","value":"1097-0223"}],"subject":[],"published":{"date-parts":[[2023,6,21]]},"assertion":[{"value":"2023-05-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}