{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T01:36:55Z","timestamp":1780450615948,"version":"3.54.1"},"reference-count":6,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2023,8,2]],"date-time":"2023-08-02T00:00:00Z","timestamp":1690934400000},"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":[[2023,9]]},"abstract":"Abstract<\/jats:title>Prenatal testing was performed in a 39\u2010year\u2010old Chinese pregnant woman referred for increased nuchal translucency measuring 5.7\u00a0mm. Non\u2010invasive prenatal testing and SNP array study on amniotic fluid samples were normal. Whole exome sequencing (WES) was initiated further as the fetus had pericardial effusion of 1.2\u00a0mm, thickened myocardium over the right ventricular lateral wall and aberrant right subclavian artery. A detailed fetal echocardiogram also revealed persistent left superior vena cava and dilated coronary sinus at 20\u00a0weeks. From whole exome sequencing of the trio, a de novo heterozygous variant NM_005359.5(SMAD4<\/jats:italic>): c.1499T>C (p.Ile500Thr) was detected. This pathogenic variant has been reported in the postnatal case cohort of Myhre syndrome. This condition is characterized by facial dysmorphism, intellectual disability, hearing loss, skeletal abnormalities and potential life threatening respiratory or cardiovascular manifestations. Termination of pregnancy was performed at 23\u00a0weeks. Small chins, pre\u2010axial polydactyly, brachydactyly and clinodactyly were noted in the abortus. Ultrasound findings of increased nuchal translucency, thickened myocardium and pericardial effusion prompted further genetic evaluation for the prenatal diagnosis of Myhre syndrome by whole exome sequencing.<\/jats:p>","DOI":"10.1002\/pd.6414","type":"journal-article","created":{"date-parts":[[2023,8,2]],"date-time":"2023-08-02T08:59:41Z","timestamp":1690966781000},"page":"1366-1369","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4<\/i> gene presented with thick nuchal translucency and cardiac abnormalities"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7376-7307","authenticated-orcid":false,"given":"Pui Wah","family":"Hui","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynaecology Queen Mary Hospital Hong Kong Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9696-8515","authenticated-orcid":false,"given":"Yin Kwan","family":"Mok","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Queen Mary Hospital Hong Kong Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ho Ming","family":"Luk","sequence":"additional","affiliation":[{"name":"Department of Health Clinical Genetic Service Hong Kong Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandy Leung Kuen","family":"Au","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Laboratory Tsan Yuk Hospital Hong Kong Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eunice Yuen Ting","family":"Lau","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Laboratory Tsan Yuk Hospital Hong Kong Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine The University of Hong Kong Hong Kong Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita Sik Yau","family":"Kan","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Laboratory Tsan Yuk Hospital Hong Kong Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,8,2]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1016"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37739"},{"key":"e_1_2_10_4_1","volume-title":"GeneReviews\u00ae","author":"Lin AE","year":"2017"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/mcd.0000000000000271"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37273"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.21382"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6414","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T06:19:53Z","timestamp":1694585993000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6414"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,2]]},"references-count":6,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["10.1002\/pd.6414"],"URL":"https:\/\/doi.org\/10.1002\/pd.6414","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,2]]},"assertion":[{"value":"2023-04-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}