{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T08:21:45Z","timestamp":1788423705540,"version":"build-2803163510"},"reference-count":46,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,12,2]],"date-time":"2015-12-02T00:00:00Z","timestamp":1449014400000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ultrasound in Obstet &amp; Gyne"],"published-print":{"date-parts":[[2015,12]]},"abstract":"Abstract<\/jats:title>\n \n Objective<\/jats:title>\n \n To estimate the incremental yield of detecting copy number variants (\n CNVs<\/jats:styled-content>\n ) by genomic microarray over karyotyping in fetuses with increased nuchal translucency (\n NT<\/jats:styled-content>\n ) diagnosed by first\u2010trimester ultrasound.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n This was a systematic review conducted in accordance with\n PRISMA<\/jats:styled-content>\n criteria. We searched\n PubMed<\/jats:styled-content>\n , Ovid\n MEDLINE<\/jats:styled-content>\n and Web of Science for studies published between January 2009 and January 2015 that described\n CNVs<\/jats:styled-content>\n in fetuses with increased\n NT<\/jats:styled-content>\n , usually defined as\u2009\u2265\u2009\u20093.5\u2009mm, and normal karyotype. Search terms included: fetal or prenatal, nuchal translucency or cystic hygroma or ultrasound anomaly, array comparative genomic hybridization or copy number variants, with related search terms. Risk differences were pooled to estimate the overall and stratified microarray incremental yield using\n RevMan<\/jats:styled-content>\n . Quality assessment of included studies was performed using the Quality Assessment tool for Diagnostic Accuracy Studies (\n QUADAS<\/jats:styled-content>\n \u20102) checklist.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Seventeen studies met the inclusion criteria for analysis. Meta\u2010analysis indicated an incremental yield of 5.0% (95%\u2009\n CI<\/jats:styled-content>\n , 2.0\u20138.0%) for the detection of\n CNVs<\/jats:styled-content>\n using microarray when pooling results. Stratified analysis of microarray results demonstrated a 4.0% (95%\u2009\n CI<\/jats:styled-content>\n , 2.0\u20137.0%) incremental yield in cases of isolated\n NT<\/jats:styled-content>\n and 7.0% (95%\u2009\n CI<\/jats:styled-content>\n , 2.0\u201312.0%) when other malformations were present. The most common pathogenic\n CNVs<\/jats:styled-content>\n reported were 22q11.2 deletion, 22q11.2 duplication, 10q26.12q26.3 deletion and 12q21q22 deletion. The pooled prevalence for variants of uncertain significance was 1%.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n The use of genomic microarray provides a 5.0% incremental yield of detecting\n CNVs<\/jats:styled-content>\n in fetuses with increased\n NT<\/jats:styled-content>\n and normal karyotype. Copyright \u00a9 2015 ISUOG. Published by John Wiley & Sons Ltd.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/uog.14880","type":"journal-article","created":{"date-parts":[[2015,4,20]],"date-time":"2015-04-20T03:48:17Z","timestamp":1429501697000},"page":"650-658","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":181,"title":["Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta\u2010analysis"],"prefix":"10.1002","volume":"46","author":[{"given":"M.","family":"Grande","sequence":"first","affiliation":[{"name":"Department of Maternal\u2010Fetal Medicine Institute of Gynecology, Obstetrics and Neonatology, Hospital Clinic of Barcelona Catalonia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. A. R.","family":"Jansen","sequence":"additional","affiliation":[{"name":"Leiden University Medical Center Department of Obstetrics and Fetal Medicine Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y. J.","family":"Blumenfeld","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynecology Stanford University School of Medicine Stanford CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Fisher","sequence":"additional","affiliation":[{"name":"Elliot Health System Manchester NH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. O.","family":"Odibo","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynecology, Division of Maternal Fetal Medicine University of South Florida Tampa FL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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