Genetic analysis of products of conception using a HLPA/SNP-array strategy

BACKGROUND: Fetal chromosomal abnormalities was the most frequent cause of miscarriage, and the traditional testing method G-banded karyotyping has limitations. Then high-throughput ligation-dependent probe amplification (HLPA) and single nucleotide polymorphism array (SNP-array) were introduced for...

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Autores principales: Mao, Jun, Wang, Huiling, Li, Haibo, Song, Xiaoyan, Wang, Ting, Xiang, Jingjing, Li, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6822274/
https://www.ncbi.nlm.nih.gov/pubmed/31687045
http://dx.doi.org/10.1186/s13039-019-0452-2
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author Mao, Jun
Wang, Huiling
Li, Haibo
Song, Xiaoyan
Wang, Ting
Xiang, Jingjing
Li, Hong
author_facet Mao, Jun
Wang, Huiling
Li, Haibo
Song, Xiaoyan
Wang, Ting
Xiang, Jingjing
Li, Hong
author_sort Mao, Jun
collection PubMed
description BACKGROUND: Fetal chromosomal abnormalities was the most frequent cause of miscarriage, and the traditional testing method G-banded karyotyping has limitations. Then high-throughput ligation-dependent probe amplification (HLPA) and single nucleotide polymorphism array (SNP-array) were introduced for genetic analysis on products of conception (POC). METHODS: HLPA and SNP-array analysis were combined. POC samples were initially tested using HLPA, followed by SNP-array analysis on samples that were found to be normal by HLPA. RESULTS: Of the 326 POC samples tested, the overall abnormality rate was 54.6% (178/326), including 44.8% (146/326) chromosomal abnormalities identified by HLPA and 9.8% (32/326) additional chromosomal abnormalities further detected by SNP-array. CONCLUSIONS: The combination of HLPA and SNP-array analysis is an efficient and cost-effective strategy for genetic analysis of POC.
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spelling pubmed-68222742019-11-04 Genetic analysis of products of conception using a HLPA/SNP-array strategy Mao, Jun Wang, Huiling Li, Haibo Song, Xiaoyan Wang, Ting Xiang, Jingjing Li, Hong Mol Cytogenet Research BACKGROUND: Fetal chromosomal abnormalities was the most frequent cause of miscarriage, and the traditional testing method G-banded karyotyping has limitations. Then high-throughput ligation-dependent probe amplification (HLPA) and single nucleotide polymorphism array (SNP-array) were introduced for genetic analysis on products of conception (POC). METHODS: HLPA and SNP-array analysis were combined. POC samples were initially tested using HLPA, followed by SNP-array analysis on samples that were found to be normal by HLPA. RESULTS: Of the 326 POC samples tested, the overall abnormality rate was 54.6% (178/326), including 44.8% (146/326) chromosomal abnormalities identified by HLPA and 9.8% (32/326) additional chromosomal abnormalities further detected by SNP-array. CONCLUSIONS: The combination of HLPA and SNP-array analysis is an efficient and cost-effective strategy for genetic analysis of POC. BioMed Central 2019-09-02 /pmc/articles/PMC6822274/ /pubmed/31687045 http://dx.doi.org/10.1186/s13039-019-0452-2 Text en © The Author(s). 2019 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
Mao, Jun
Wang, Huiling
Li, Haibo
Song, Xiaoyan
Wang, Ting
Xiang, Jingjing
Li, Hong
Genetic analysis of products of conception using a HLPA/SNP-array strategy
title Genetic analysis of products of conception using a HLPA/SNP-array strategy
title_full Genetic analysis of products of conception using a HLPA/SNP-array strategy
title_fullStr Genetic analysis of products of conception using a HLPA/SNP-array strategy
title_full_unstemmed Genetic analysis of products of conception using a HLPA/SNP-array strategy
title_short Genetic analysis of products of conception using a HLPA/SNP-array strategy
title_sort genetic analysis of products of conception using a hlpa/snp-array strategy
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6822274/
https://www.ncbi.nlm.nih.gov/pubmed/31687045
http://dx.doi.org/10.1186/s13039-019-0452-2
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