{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:00:58Z","timestamp":1761102058819},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,1,28]],"date-time":"2013-01-28T00:00:00Z","timestamp":1359331200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2013,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To report a novel method of rapidly detecting fetal aneuploidies for spontaneous abortion using ultra\u2010low whole genome sequencing data on a benchtop sequencing platform.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Fetal chorionic villus samples were collected from 40 cases of spontaneous abortion with 22 different types of aneuploidy. Genomic DNA of each sample was extracted and sequenced on Illumina MiSeq platform. Unique reads of different read lengths were generated and analyzed using a <jats:italic>z\u2010score<\/jats:italic> test.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The entire test was finished in 48\u2009hours. An average of 102\u2009k unique reads was obtained for each sample, and all 40 different aneuploidy samples were correctly identified with a z\u2010score of \u22653 or\u2009\u2264\u2009\u20103. No false positives or false negatives were observed. Further analysis demonstrated that read length and sequencing type (Paired\u2010end or Single\u2010end) significantly affects the efficiency of sex chromosomal aneuploidy detection. Paired\u2010end 50\u2009bp reads displayed the highest mapping rate and is recommended for future large\u2010scale clinical settings.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Ultra\u2010low whole genome sequencing can rapidly detect aneuploidy of chromosomes in spontaneous abortion samples in less than 48\u2009hours and therefore can serve as an alternative option to current aneuploidy detection methods for aborted tissues. \u00a9 2013 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.4049","type":"journal-article","created":{"date-parts":[[2013,1,29]],"date-time":"2013-01-29T10:13:24Z","timestamp":1359454404000},"page":"232-237","source":"Crossref","is-referenced-by-count":9,"title":["Rapid detection of aneuploidies on a benchtop sequencing platform"],"prefix":"10.1002","volume":"33","author":[{"given":"Weiwei","family":"Xie","sequence":"first","affiliation":[{"name":"BGI\u2010Shenzhen  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yueqiu","family":"Tan","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering Central South University  Changsha China"},{"name":"Reproductive &amp; 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