{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T11:22:48Z","timestamp":1792149768841,"version":"4.4.0"},"reference-count":23,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,5,24]],"date-time":"2022-05-24T00:00:00Z","timestamp":1653350400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81871174"],"award-info":[{"award-number":["81871174"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82071656"],"award-info":[{"award-number":["82071656"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["21Y11907500"],"award-info":[{"award-number":["21Y11907500"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To investigate the use of chromosomal microarray (CMA) and Exome sequencing (ES) in fetuses with congenital heart disease (CHD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The Fetal Medicine Unit of Shanghai First Maternity and Infant Hospital records were reviewed to ascertain all cases diagnosed with CHD by level 2 ultrasound examination between 2016 and 2019. Cases were categorized as isolated or associated with other abnormalities or fetal growth restriction. CMA was offered to all cases as a first\u2010line genetic test followed by ES when CMA was non\u2010diagnostic.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of the 586 ascertained, 84 (14.3%) had causative CMA abnormality, of which 8.8% (35\/400) were in fetuses with isolated CHD and 26.3% (49\/186) in those with other abnormalities. ES was performed in 47 cases with a negative CMA. Causative variants were identified in two (10.5%, 2\/19) isolated cases and four(14.3%, 4\/28) with other abnormalities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Invasive procedures with CMA should be offered in pregnancies complicated by both non\u2010isolated and isolated cardiac abnormalities. When CMA is not diagnostic, ES can add diagnostic value in both groups and should be considered even for fetuses with an isolated CHD.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6168","type":"journal-article","created":{"date-parts":[[2022,5,18]],"date-time":"2022-05-18T18:44:37Z","timestamp":1652899477000},"page":"873-880","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Prenatal diagnosis for fetuses with isolated and non\u2010isolated congenital heart defects using chromosomal microarray and exome sequencing"],"prefix":"10.1002","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5791-7640","authenticated-orcid":false,"given":"Ya","family":"Xing","sequence":"first","affiliation":[{"name":"Department of Fetal Medicine &amp; Prenatal Diagnosis Center Shanghai Key Laboratory of Maternal Fetal Medicine Shanghai First Maternity and Infant Hospital Tongji University School of Medicine  Shanghai 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