{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T19:18:25Z","timestamp":1785266305650,"version":"3.55.0"},"reference-count":30,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2011,7,5]],"date-time":"2011-07-05T00:00:00Z","timestamp":1309824000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"NIH New Innovator Award"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2011,10]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>Accumulating evidence suggests that genomic structural variations, particularly copy number variations (CNV), are a common occurrence in humans that may bear phenotypic consequences for living individuals possessing the variant. While precise estimates vary, large\u2010scale karyotypic abnormalities are present in 6\u201312% of stillbirths (SB). However, due to inherent limitations of conventional cytogenetics, the contribution of genomic aberrations to stillbirth is likely underrepresented. High\u2010resolution copy number variant analysis by genomic array\u2010based profiling may overcome such limitations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Prospectively acquired SB cases &gt; 22 weeks underwent classification of \u2018unexplained\u2019 stillbirth by Wigglesworth and Aberdeen criteria after extensive testing and rigorous multidisciplinary audit. Genome\u2010wide analysis was conducted using high\u2010resolution Illumina single nucleotide polymorphism (SNP) arrays (Human CNV370\u2010Duo) on placental and fetal samples. Potential alternate detection methods were completed by one or more of three independent means (quantitative PCR, Illumina1M, or Agilent105K comparative genomic hybridization arrays).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In our cohort of 54 stillbirths, 29 met strict unexplained criteria. Among these, we identified 24 putative novel CNVs. Subsequent interrogation detected 18 of 24 CNVs (75%) in placental samples, 8 of which were also confirmed in available fetal samples; none were present in maternal blood.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We describe the potential of whole\u2010genome placental profiling to identify small genomic imbalances, which might contribute to a small proportion of well\u2010characterized, unexplained stillbirths. Copyright \u00a9 2011 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.2817","type":"journal-article","created":{"date-parts":[[2011,7,6]],"date-time":"2011-07-06T03:24:38Z","timestamp":1309922678000},"page":"932-944","source":"Crossref","is-referenced-by-count":25,"title":["Genome\u2010wide array\u2010based copy number profiling in human placentas from unexplained stillbirths"],"prefix":"10.1002","volume":"31","author":[{"given":"R. Alan","family":"Harris","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Ferrari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shay","family":"Ben\u2010Shachar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoling","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Saade","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignatia","family":"Van Den 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