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Cui W, Liu X, Zhang Y, et al. Evaluation of non-invasive prenatal testing to detect chromosomal aberrations in a Chinese cohort. J Cell Mol Med. 2019;23(11):7873-7878doi: 10.1111/jcmm.14614.
Cui, W., Liu, X., Zhang, Y., Wang, Y., Chu, G., He, R., & Zhao, Y. (2019). Evaluation of non-invasive prenatal testing to detect chromosomal aberrations in a Chinese cohort. Journal of cellular and molecular medicine, 23(11), 7873-7878. https://doi.org/10.1111/jcmm.14614
Cui, Wanting, et al. "Evaluation of non-invasive prenatal testing to detect chromosomal aberrations in a Chinese cohort." Journal of cellular and molecular medicine vol. 23,11 (2019): 7873-7878. doi: https://doi.org/10.1111/jcmm.14614
Cui W, Liu X, Zhang Y, Wang Y, Chu G, He R, Zhao Y. Evaluation of non-invasive prenatal testing to detect chromosomal aberrations in a Chinese cohort. J Cell Mol Med. 2019 Nov;23(11):7873-7878. doi: 10.1111/jcmm.14614. Epub 2019 Aug 27. PMID: 31454164; PMCID: PMC6815821.
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J Cell Mol Med. 2019 Nov;23(11):7873-7878. doi: 10.1111/jcmm.14614. Epub 2019 Aug 27.

Evaluation of non-invasive prenatal testing to detect chromosomal aberrations in a Chinese cohort.

Journal of cellular and molecular medicine

Wanting Cui, Xiaoliang Liu, Yuanyuan Zhang, Yueping Wang, Guoming Chu, Rong He, Yanyan Zhao

Affiliations

  1. Shengjing Hospital of China Medical University, Shenyang, China.

PMID: 31454164 PMCID: PMC6815821 DOI: 10.1111/jcmm.14614

Abstract

The aim of this study was to evaluate the clinical feasibility of non-invasive prenatal testing (NIPT) to detect foetal copy number variations (CNVs). Next-generation sequencing for detecting foetal copy number variations (CNVs) was performed on the collected samples from 161 pregnancies with ultrasound anomalies and negative NIPT results for aneuploidy. The performance of NIPT for detecting chromosome aberrations was calculated. The sensitivity and specificity of NIPT for detecting CNVs > 1 Mb were 83.33% and 99.34%; the PPV and negative predictive rate (NPV) were 90.91% and 98.68%. Non-invasive prenatal testing can be performed to detect chromosomal aberrations in first trimester with high performance for CNVs, and occasional discordant cases are unavoidable.

© 2019 The Authors. Journal of Cellular and Molecular Medicine published by John Wiley & Sons Ltd and Foundation for Cellular and Molecular Medicine.

Keywords: copy number variations; genetic counselling; non-invasive prenatal testing; prenatal diagnosis

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