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Clinical application of massively parallel sequencing‐based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11 105 pregnancies with mixed risk factors
Open accessAbstract
Objective: To report the performance of massively parallel sequencing (MPS) based prenatal noninvasive fetal trisomy test based on cell‐free DNA sequencing from maternal plasma in a routine clinical setting in China. Method: The MPS‐based test was offered as a prenatal screening test for trisomies 21 and 18 to pregnant women in 49 medical centers over 2 years. A total of 11 263 participants were recruited and the MPS‐based test was performed in 11 105 pregnancies. Fetal outcome data were obtained after the expected date of confinement. Results: One hundred ninety cases were classified as positive, including 143 cases of trisomy 21 and 47 cases of trisomy 18. With the karyotyping results and the feedback of fetal outcome data, we observed one false positive case of trisomy 21, one false positive case of trisomy 18 and no false negative cases, indicating 100% sensitivity and 99.96% specificity for the detection of trisomies 21 and 18. Conclusion: Our large‐scale multicenter study proved that the MPS‐based test is of high sensitivity and specificity in detecting fetal trisomies 21 and 18. The introduction of this screening test into a routine clinical setting could avoid about 98% of invasive prenatal diagnostic procedures. © 2012 John Wiley & Sons, Ltd.
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Cites
Noninvasive Fetal Sex Determination Using Cell-Free Fetal DNA: A Systematic Review and Meta-analysis
Devaney, S. A., Palomaki, G. E., Scott, J. A., & Bianchi, D. W. (2011) · JAMA · doi:10.1001/jama.2011.1114 · Cited by 247
Cited by
Cell-free DNA Analysis for Noninvasive Examination of Trisomy
Norton, M. E., Jacobsson, B., Swamy, G. K., Laurent, L. C., Ranzini, A. C., Brar, H., Tomlinson, M. W., Pereira, L., Spitz, J. L., Hollemon, D., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1407349 · Cited by 817
Gestational age and maternal weight effects on fetal cell‐free DNA in maternal plasma
Wang, E., Batey, A., Struble, C., Musci, T., Song, K., & Oliphant, A. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4119 · Cited by 440
on behalf of the European Society of Human Genetics (ESHG) and the American Society of Human Genetics (ASHG), Dondorp, W., de Wert, G., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., Chitty, L. S., Fellmann, F., Forzano, F., et al. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.57 · Cited by 349
Benn, P., Borrell, A., Chiu, R. W. K., Cuckle, H., Dugoff, L., Faas, B., Gross, S., Huang, T., Johnson, J., Maymon, R., et al. (2015) · Prenatal Diagnosis · doi:10.1002/pd.4608 · Cited by 292
Pergament, E., Cuckle, H., Zimmermann, B., Banjevic, M., Sigurjonsson, S., Ryan, A., Hall, M. P., Dodd, M., Lacroute, P., Stosic, M., et al. (2014) · Obstetrics & Gynecology · doi:10.1097/aog.0000000000000363 · Cited by 284
Metadata
- Authors
- Dan, S., Wang, W., Ren, J., Li, Y., Hu, H., Xu, Z., Lau, T. K., Xie, J., Zhao, W., Huang, H., Xie, J., Sun, L., Zhang, X., Wang, W., Liao, S., Qiang, R., Cao, J., Zhang, Q., Zhou, Y., Zhu, H., Zhong, M., Guo, Y., Lin, L., Gao, Z., Yao, H., Zhang, H., Zhao, L., Jiang, F., Chen, F., Jiang, H., Li, S., Li, Y., Wang, J., Wang, J., Duan, T., Su, Y., & Zhang, X.
- Venue
- Prenatal Diagnosis
- Publisher
- Wiley
- Published
- 2012-11-09
- Volume
- 32
- Issue
- 13
- Pages
- 1225-1232
- ISSN
- 0197-3851 (ISSN-L)
- 1097-0223
- OpenAlex
- W2108641027
- Cited by
- 230
- References
- 1
- FWCI
- 33.22
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Dan, S., Wang, W., Ren, J., Li, Y., Hu, H., Xu, Z., Lau, T. K., Xie, J., Zhao, W., Huang, H., Xie, J., Sun, L., Zhang, X., Wang, W., Liao, S., Qiang, R., Cao, J., Zhang, Q., Zhou, Y., . . . Zhang, X. (2012). Clinical application of massively parallel sequencing‐based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11 105 pregnancies with mixed risk factors. Prenatal Diagnosis. https://doi.org/10.1002/pd.4002
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