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

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 ultras...

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Autores principales: Cui, Wanting, Liu, Xiaoliang, Zhang, Yuanyuan, Wang, Yueping, Chu, Guoming, He, Rong, Zhao, Yanyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Short Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6815821/
https://www.ncbi.nlm.nih.gov/pubmed/31454164
http://dx.doi.org/10.1111/jcmm.14614
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author Cui, Wanting
Liu, Xiaoliang
Zhang, Yuanyuan
Wang, Yueping
Chu, Guoming
He, Rong
Zhao, Yanyan
author_facet Cui, Wanting
Liu, Xiaoliang
Zhang, Yuanyuan
Wang, Yueping
Chu, Guoming
He, Rong
Zhao, Yanyan
author_sort Cui, Wanting
collection PubMed
description 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.
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spelling pubmed-68158212019-11-01 Evaluation of non‐invasive prenatal testing to detect chromosomal aberrations in a Chinese cohort Cui, Wanting Liu, Xiaoliang Zhang, Yuanyuan Wang, Yueping Chu, Guoming He, Rong Zhao, Yanyan J Cell Mol Med Short Communications 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. John Wiley and Sons Inc. 2019-08-27 2019-11 /pmc/articles/PMC6815821/ /pubmed/31454164 http://dx.doi.org/10.1111/jcmm.14614 Text en © 2019 The Authors. Journal of Cellular and Molecular Medicine published by John Wiley & Sons Ltd and Foundation for Cellular and Molecular Medicine. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Short Communications
Cui, Wanting
Liu, Xiaoliang
Zhang, Yuanyuan
Wang, Yueping
Chu, Guoming
He, Rong
Zhao, Yanyan
Evaluation of non‐invasive prenatal testing to detect chromosomal aberrations in a Chinese cohort
title Evaluation of non‐invasive prenatal testing to detect chromosomal aberrations in a Chinese cohort
title_full Evaluation of non‐invasive prenatal testing to detect chromosomal aberrations in a Chinese cohort
title_fullStr Evaluation of non‐invasive prenatal testing to detect chromosomal aberrations in a Chinese cohort
title_full_unstemmed Evaluation of non‐invasive prenatal testing to detect chromosomal aberrations in a Chinese cohort
title_short Evaluation of non‐invasive prenatal testing to detect chromosomal aberrations in a Chinese cohort
title_sort evaluation of non‐invasive prenatal testing to detect chromosomal aberrations in a chinese cohort
topic Short Communications
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6815821/
https://www.ncbi.nlm.nih.gov/pubmed/31454164
http://dx.doi.org/10.1111/jcmm.14614
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