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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.
Prenat Diagn. 2012 Dec; 32(13):1225-32.PD

Abstract

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.

Authors+Show Affiliations

BGI-Shenzhen, Shenzhen, China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Clinical Trial
Journal Article
Multicenter Study

Language

eng

PubMed ID

23138752

Citation

Dan, Shan, et al. "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, vol. 32, no. 13, 2012, pp. 1225-32.
Dan S, Wang W, Ren J, et al. 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. Prenat Diagn. 2012;32(13):1225-32.
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, 32(13), 1225-32. https://doi.org/10.1002/pd.4002
Dan S, et al. 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. Prenat Diagn. 2012;32(13):1225-32. PubMed PMID: 23138752.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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. AU - Dan,Shan, AU - Wang,Wei, AU - Ren,Jinghui, AU - Li,Yali, AU - Hu,Hua, AU - Xu,Zhengfeng, AU - Lau,Tze Kin, AU - Xie,Jianhong, AU - Zhao,Weihua, AU - Huang,Hefeng, AU - Xie,Jiansheng, AU - Sun,Luming, AU - Zhang,Xiaohong, AU - Wang,Weipeng, AU - Liao,Shixiu, AU - Qiang,Rong, AU - Cao,Jiangxia, AU - Zhang,Qiufang, AU - Zhou,Yulin, AU - Zhu,Haiyan, AU - Zhong,Mei, AU - Guo,Yi, AU - Lin,Linhua, AU - Gao,Zhiying, AU - Yao,Hong, AU - Zhang,Hongyun, AU - Zhao,Lijian, AU - Jiang,Fuman, AU - Chen,Fang, AU - Jiang,Hui, AU - Li,Songgang, AU - Li,Yingrui, AU - Wang,Jun, AU - Wang,Jian, AU - Duan,Tao, AU - Su,Yue, AU - Zhang,Xiuqing, Y1 - 2012/11/09/ PY - 2012/11/10/entrez PY - 2012/11/10/pubmed PY - 2013/5/28/medline SP - 1225 EP - 32 JF - Prenatal diagnosis JO - Prenat. Diagn. VL - 32 IS - 13 N2 - 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. SN - 1097-0223 UR - https://www.unboundmedicine.com/medline/citation/23138752/Clinical_application_of_massively_parallel_sequencing_based_prenatal_noninvasive_fetal_trisomy_test_for_trisomies_21_and_18_in_11105_pregnancies_with_mixed_risk_factors_ L2 - https://doi.org/10.1002/pd.4002 DB - PRIME DP - Unbound Medicine ER -