{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T04:15:00Z","timestamp":1783656900707,"version":"3.55.0"},"reference-count":37,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,1,27]],"date-time":"2016-01-27T00:00:00Z","timestamp":1453852800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003781","name":"General Armaments Department, People's Liberation Army","doi-asserted-by":"publisher","award":["BWS11J058"],"award-info":[{"award-number":["BWS11J058"]}],"id":[{"id":"10.13039\/501100003781","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Currently, our understanding of the nature and reproductive potential of blastocysts associated with trophectoderm (TE) lineage chromosomal mosaicism is limited. The objective of this study was to first validate copy number variation sequencing (CNV\u2010Seq) for measuring the level of mosaicism and second, examine the nature and level of mosaicism in TE biopsies of patient's blastocysts.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>TE biopy samples were analysed by array comparative genomic hybridization (CGH) and CNV\u2010Seq to discriminate between euploid, aneuploid and mosaic blastocysts.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Using artificial models of TE mosaicism for five different chromosomes, CNV\u2010Seq accurately and reproducibly quantitated mosaicism at levels of 50% and 20%. In a comparative 24\u2010chromosome study of 49 blastocysts by array CGH and CNV\u2010Seq, 43 blastocysts (87.8%) had a concordant diagnosis and 6 blastocysts (12.2%) were discordant. The discordance was attributed to low to medium levels of chromosomal mosaicism (30\u201370%) not detected by array CGH. In an expanded study of 399 blastocysts using CNV\u2010Seq as the sole diagnostic method, the proportion of diploid\u2010aneuploid mosaics (34, 8.5%) was significantly higher than aneuploid mosaics (18, 4.5%) (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.02).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Mosaicism is a significant chromosomal abnormality associated with the TE lineage of human blastocysts that can be reliably and accurately detected by CNV\u2010Seq. \u00a9 2015 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.4759","type":"journal-article","created":{"date-parts":[[2015,12,17]],"date-time":"2015-12-17T14:41:55Z","timestamp":1450363315000},"page":"154-162","source":"Crossref","is-referenced-by-count":58,"title":["Detection and quantitation of chromosomal mosaicism in human blastocysts using copy number variation sequencing"],"prefix":"10.1002","volume":"36","author":[{"given":"Tida","family":"Ruttanajit","sequence":"first","affiliation":[{"name":"Safe Fertility Center  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sujin","family":"Chanchamroen","sequence":"additional","affiliation":[{"name":"Safe Fertility Center  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David S.","family":"Cram","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Developmental Biology Monash University  Melbourne Australia"},{"name":"Berry Genomics, C., Limited  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kritchakorn","family":"Sawakwongpra","sequence":"additional","affiliation":[{"name":"Safe Fertility Center  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wanwisa","family":"Suksalak","sequence":"additional","affiliation":[{"name":"Safe Fertility Center  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