Non‐invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146 958 pregnancies

• DOI: 10.1002/uog.14792
• Publication Date: 2015-01-19T10:57:09Z
• Authors: H. Zhang; Y. Gao; F. Jiang; M. Fu; Y. Yuan; Y. Guo; Z. Zhu; M. Lin; Q. Liu; Z. Tian; H. Zhang; F. Chen; T. K. Lau; L. Zhao; X. Yi; Y. Yin; W. Wang
• Keywords: Trisomy; Cell-free fetal DNA

ABSTRACT Objectives To report the clinical performance of massively parallel sequencing‐based non‐invasive prenatal testing ( NIPT ) in detecting trisomies 21, 18 and 13 over 140 000 samples to compare its low‐risk high‐risk pregnancies. Methods Between 1 January 2012 31 August 2013, 147 314 requests screen for fetal using low‐coverage whole‐genome sequencing plasma cell‐free DNA were received. The results validated by karyotyping or follow‐up outcomes. Results was performed obtained 146 958 samples, which outcome data available 112 669 (76.7%). Repeat blood sampling required 3213 cases 145 had test failure. Aneuploidy confirmed 720/781 positive trisomy 167/218 22/67 on . Nine false negatives identified, including six 21 three 18. overall sensitivity 99.17%, 98.24% 100% 13, respectively, specificity 99.95%, 99.95% 99.96% respectively. There no significant difference between 72 382 40 287 subjects (sensitivity, 99.21% vs 98.97% P = 0.82); specificity, 0.98)). major factors contributing false‐positive false‐negative maternal copy number variant fetal/placental mosaicism, but fraction effect. Conclusions Using a stringent protocol, good shown early validation studies can be maintained large samples. This technique provide equally high screening low‐risk, as compared high‐risk, population. Copyright © 2015 ISUOG. Published John Wiley & Sons Ltd.