{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T14:32:20Z","timestamp":1787063540239,"version":"build-2736575974"},"reference-count":29,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,9,9]],"date-time":"2019-09-09T00:00:00Z","timestamp":1567987200000},"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":["Acta Obstet Gynecol Scand"],"published-print":{"date-parts":[[2020,6]]},"abstract":"Abstract<\/jats:title>\n \n Introduction<\/jats:title>\n \n Ventricular septal defect (\n VSD<\/jats:styled-content>\n ) represents the most common type of congenital cardiac anomaly, affecting more than 1 in 300 live births. The objective of this study was to examine the incidence and nature of abnormal chromosomal microarray analysis (\n CMA<\/jats:styled-content>\n ) results in a large cohort of pregnancies with\n VSD<\/jats:styled-content>\n .\n <\/jats:p>\n <\/jats:sec>\n \n Material and methods<\/jats:title>\n \n Data acquisition was performed through the Ministry of Health computerized database. All\n CMA<\/jats:styled-content>\n results performed due to\n VSD<\/jats:styled-content>\n during 2013\u20102017 were included. The rates of clinically significant\n CMA<\/jats:styled-content>\n results of cases with isolated and non\u2010isolated\n VSD<\/jats:styled-content>\n were compared with two control populations\u2014a systematic review of 9272 pregnancies and a local cohort of 5541 fetuses with normal ultrasound.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Overall, 691\n CMA<\/jats:styled-content>\n analyses performed due to a sonographic indication of\n VSD<\/jats:styled-content>\n were detected. Of 568 pregnancies with isolated\n VSD<\/jats:styled-content>\n , eight (1.4%) clinically significant copy number variants were detected, a nonsignificant difference compared with low risk pregnancies. Of the 123 pregnancies with non\u2010isolated\n VSD<\/jats:styled-content>\n s, 18 (14.6%) clinically significant\n CMA<\/jats:styled-content>\n results were detected, a considerably increased risk compared with control pregnancies. Karyotype\u2010detectable anomalies constituted 12 of the 18 abnormal\n CMA<\/jats:styled-content>\n results in non\u2010isolated\n VSD<\/jats:styled-content>\n group (66.7%), a significantly higher proportion compared with 2 of 8 (25%) in isolated\n VSD<\/jats:styled-content>\n cohort.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n The outcomes of our study, representing the largest number of\n CMA<\/jats:styled-content>\n results in pregnancies with\n VSD<\/jats:styled-content>\n , suggest that the rate of abnormal\n CMA<\/jats:styled-content>\n findings in isolated\n VSD<\/jats:styled-content>\n does not differ from pregnancies with normal ultrasound. This observation is true for populations undergoing routine common trisomy screening tests and early sonographic evaluation, as well as widely available non\u2010invasive prenatal screening. Conversely,\n CMA<\/jats:styled-content>\n analysis yields a high detection rate in pregnancies with non\u2010isolated\n VSD<\/jats:styled-content>\n . Our results question the recommendation to perform invasive prenatal testing for\n CMA<\/jats:styled-content>\n in pregnancies with isolated\n VSD<\/jats:styled-content>\n .\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/aogs.13708","type":"journal-article","created":{"date-parts":[[2019,8,19]],"date-time":"2019-08-19T07:44:11Z","timestamp":1566200651000},"page":"757-764","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["What have we learned from 691 prenatal chromosomal microarrays for ventricular septal defects?"],"prefix":"10.1111","volume":"99","author":[{"given":"Idit","family":"Maya","sequence":"first","affiliation":[{"name":"Rabin Medical Center Recanati Genetics Institute Beilinson Hospital Petach Tikva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amihood","family":"Singer","sequence":"additional","affiliation":[{"name":"Community Genetics Public Health Services Ministry of Health Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hagith","family":"Yonath","sequence":"additional","affiliation":[{"name":"Sheba Medical Center Genetics Institute Tel Hashomer, Ramat Gan Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adi","family":"Reches","sequence":"additional","affiliation":[{"name":"Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel"},{"name":"Tel Aviv Sourasky Medical Center Genetics Institute Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shlomit","family":"Rienstein","sequence":"additional","affiliation":[{"name":"Danek Gertner Institute of Human Genetics Tel Aviv University Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon","family":"Zeligson","sequence":"additional","affiliation":[{"name":"Shaare Zedek Medical Center Medical Genetics Institute Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shay","family":"Ben Shachar","sequence":"additional","affiliation":[{"name":"Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel"},{"name":"Tel Aviv Sourasky Medical Center Genetics Institute Tel Aviv Israel"},{"name":"Clalit Research Institute Ramat Gan Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0883-2130","authenticated-orcid":false,"given":"Lena","family":"Sagi\u2010Dain","sequence":"additional","affiliation":[{"name":"Carmel Medical Center Genetics Institute Haifa Israel"},{"name":"Ruth and Bruce Rappaport Faculty of Medicine Technion \u2010 Israel Institute of Technology Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,9,9]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(96)00381-6"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00801907"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.0000116144.43797.3B"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm3020432"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12527"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.2000.00202.x"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.356"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/fn.77.1.F41"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4209"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12575"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000001405"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00404-017-4518-2"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4954"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4953"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1080\/14767058.2018.1449829"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.89"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2884"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182217a3a"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0550-x"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.3945"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0076314"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-015-0163-4"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa043693"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.157"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-013-0766-5"},{"key":"e_1_2_9_27_1","first-page":"1993","volume-title":"GeneReviews\u00ae","author":"Girirajan 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