{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T21:48:59Z","timestamp":1771364939760,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,12,23]],"date-time":"2015-12-23T00:00:00Z","timestamp":1450828800000},"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":[[2016,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>Clinical performance of a low coverage, low cost, massively parallel sequencing (MPS)\u2010based assay to stratify risk of trisomy 21, 18, and 13 pregnancies was determined.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The study included 1100 samples with birth outcome or karyotype results, comprising low\u2010risk patients (84.2%) negative for risk indications from maternal age, serum screening, ultrasound, or family history, and high\u2010risk patients (15.8%) with at least one of the aforementioned indications. Cell free DNA (cfDNA) was extracted from maternal plasma. Library preparation incorporated 96 index barcodes to enable sequencing on a HiSeq 2000 or 2500. Risk scores were calculated using chromosomal representation, fetal fraction, and maternal age at the estimated date of delivery. A risk score greater than or equal to 1 in 100 was used to stratify samples as high risk for trisomy 21, trisomy 18, or trisomy 13.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Sensitivity and specificity were calculated based on risk group stratification. Trisomy 21, trisomy 18, and trisomy 13 were detected with greater than 99% sensitivity and 99.9% specificity. Fetal sex classification accuracy was 99.3%.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We conclude that simplified MPS can be used to stratify the risk of pregnancies for trisomy 21, trisomy 18, and trisomy 13 and accurately determine fetal sex. \u00a9 2015 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.4712","type":"journal-article","created":{"date-parts":[[2015,10,28]],"date-time":"2015-10-28T01:30:12Z","timestamp":1445995812000},"page":"56-62","source":"Crossref","is-referenced-by-count":15,"title":["Application of risk score analysis to low\u2010coverage whole genome sequencing data for the noninvasive detection of trisomy 21, trisomy 18, and trisomy 13"],"prefix":"10.1002","volume":"36","author":[{"given":"J. A.","family":"Tynan","sequence":"first","affiliation":[{"name":"Sequenom Laboratories  San Diego CA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. 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