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Chromosomal copy number analysis on chorionic villus samples from early spontaneous miscarriages by high throughput genetic technology

BACKGROUND: About 10 –15 % of all clinically recognized pregnancies result in spontaneous miscarriages, and chromosomal abnormalities are the most common reason. The conventional karyotyping on chorionic villus samples (CVSs) is limited by cell culture and its resolution. This study aimed at evaluat...

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Autores principales: Shen, Jiandong, Wu, Wei, Gao, Chao, Ochin, Humphrey, Qu, Dianyun, Xie, Jiazi, Gao, Li, Zhou, Yadong, Cui, Yugui, Liu, Jiayin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4728779/
https://www.ncbi.nlm.nih.gov/pubmed/26819630
http://dx.doi.org/10.1186/s13039-015-0210-z
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author Shen, Jiandong
Wu, Wei
Gao, Chao
Ochin, Humphrey
Qu, Dianyun
Xie, Jiazi
Gao, Li
Zhou, Yadong
Cui, Yugui
Liu, Jiayin
author_facet Shen, Jiandong
Wu, Wei
Gao, Chao
Ochin, Humphrey
Qu, Dianyun
Xie, Jiazi
Gao, Li
Zhou, Yadong
Cui, Yugui
Liu, Jiayin
author_sort Shen, Jiandong
collection PubMed
description BACKGROUND: About 10 –15 % of all clinically recognized pregnancies result in spontaneous miscarriages, and chromosomal abnormalities are the most common reason. The conventional karyotyping on chorionic villus samples (CVSs) is limited by cell culture and its resolution. This study aimed at evaluating the efficiency of the application of high throughput genetic technology, including array comparative genomic hybridization (array CGH) and next generation sequencing (NGS) on the chromosomal copy number analysis of CVSs from early spontaneous miscarriages. RESULTS: Four hundred and thirty-six CVSs from early spontaneous abortion were collected. Genomic DNA was extracted using a routine method, and the chromosomal copy number variants (CNVs) were analyzed by array CGH and NGS. Two hundred and twenty-five samples (51.6 %) with abnormal chromosomes were identified among 436 samples, of which 188 samples (41.3 %) were aneuploidy, 23 samples (5.3 %) were segmental deletion and/or duplication cases, and 14 samples (3.2 %) were triploid. Two of the three cases with small segmental deletion and duplication were validated to be transferred from their fathers who were carriers of submicroscopic reciprocal translocation. CONCLUSION: A high chromosomal abnormality detection rate on CVSs from early spontaneous miscarriage was achieved by array CGH and NGS. Specifically, the detection of submicroscopic recombination, which is sometimes missed by conventional karyotyping, was important for genetic counseling for the couples that suffered from recurrent miscarriages.
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spelling pubmed-47287792016-01-28 Chromosomal copy number analysis on chorionic villus samples from early spontaneous miscarriages by high throughput genetic technology Shen, Jiandong Wu, Wei Gao, Chao Ochin, Humphrey Qu, Dianyun Xie, Jiazi Gao, Li Zhou, Yadong Cui, Yugui Liu, Jiayin Mol Cytogenet Research BACKGROUND: About 10 –15 % of all clinically recognized pregnancies result in spontaneous miscarriages, and chromosomal abnormalities are the most common reason. The conventional karyotyping on chorionic villus samples (CVSs) is limited by cell culture and its resolution. This study aimed at evaluating the efficiency of the application of high throughput genetic technology, including array comparative genomic hybridization (array CGH) and next generation sequencing (NGS) on the chromosomal copy number analysis of CVSs from early spontaneous miscarriages. RESULTS: Four hundred and thirty-six CVSs from early spontaneous abortion were collected. Genomic DNA was extracted using a routine method, and the chromosomal copy number variants (CNVs) were analyzed by array CGH and NGS. Two hundred and twenty-five samples (51.6 %) with abnormal chromosomes were identified among 436 samples, of which 188 samples (41.3 %) were aneuploidy, 23 samples (5.3 %) were segmental deletion and/or duplication cases, and 14 samples (3.2 %) were triploid. Two of the three cases with small segmental deletion and duplication were validated to be transferred from their fathers who were carriers of submicroscopic reciprocal translocation. CONCLUSION: A high chromosomal abnormality detection rate on CVSs from early spontaneous miscarriage was achieved by array CGH and NGS. Specifically, the detection of submicroscopic recombination, which is sometimes missed by conventional karyotyping, was important for genetic counseling for the couples that suffered from recurrent miscarriages. BioMed Central 2016-01-26 /pmc/articles/PMC4728779/ /pubmed/26819630 http://dx.doi.org/10.1186/s13039-015-0210-z Text en © Shen et al. 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research
Shen, Jiandong
Wu, Wei
Gao, Chao
Ochin, Humphrey
Qu, Dianyun
Xie, Jiazi
Gao, Li
Zhou, Yadong
Cui, Yugui
Liu, Jiayin
Chromosomal copy number analysis on chorionic villus samples from early spontaneous miscarriages by high throughput genetic technology
title Chromosomal copy number analysis on chorionic villus samples from early spontaneous miscarriages by high throughput genetic technology
title_full Chromosomal copy number analysis on chorionic villus samples from early spontaneous miscarriages by high throughput genetic technology
title_fullStr Chromosomal copy number analysis on chorionic villus samples from early spontaneous miscarriages by high throughput genetic technology
title_full_unstemmed Chromosomal copy number analysis on chorionic villus samples from early spontaneous miscarriages by high throughput genetic technology
title_short Chromosomal copy number analysis on chorionic villus samples from early spontaneous miscarriages by high throughput genetic technology
title_sort chromosomal copy number analysis on chorionic villus samples from early spontaneous miscarriages by high throughput genetic technology
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4728779/
https://www.ncbi.nlm.nih.gov/pubmed/26819630
http://dx.doi.org/10.1186/s13039-015-0210-z
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