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Submicroscopic aberrations of chromosome 16 in prenatal diagnosis

BACKGROUND: Nearly 9.89% of chromosome 16 consists of segmental duplications, which makes it prone to non-homologous recombination. The present study aimed to investigate the incidence and perinatal characteristics of submicroscopic chromosome 16 aberrations in prenatal diagnosis. RESULTS: A total o...

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Autores principales: Wu, Xiaoqing, Xu, Liangpu, Li, Ying, Lin, Na, Su, Linjuan, Cai, Meiying, Xie, Xiaorui, Zheng, Lin, Huang, Hailong, Lin, Yuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6681493/
https://www.ncbi.nlm.nih.gov/pubmed/31391865
http://dx.doi.org/10.1186/s13039-019-0448-y
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author Wu, Xiaoqing
Xu, Liangpu
Li, Ying
Lin, Na
Su, Linjuan
Cai, Meiying
Xie, Xiaorui
Zheng, Lin
Huang, Hailong
Lin, Yuan
author_facet Wu, Xiaoqing
Xu, Liangpu
Li, Ying
Lin, Na
Su, Linjuan
Cai, Meiying
Xie, Xiaorui
Zheng, Lin
Huang, Hailong
Lin, Yuan
author_sort Wu, Xiaoqing
collection PubMed
description BACKGROUND: Nearly 9.89% of chromosome 16 consists of segmental duplications, which makes it prone to non-homologous recombination. The present study aimed to investigate the incidence and perinatal characteristics of submicroscopic chromosome 16 aberrations in prenatal diagnosis. RESULTS: A total of 2,414 consecutive fetuses that underwent prenatal chromosomal microarray analysis (CMA) between January 2016 and December 2018 were reviewed. Submicroscopic anomalies of chromosome 16 accounted for 11.1% (15/134) of all submicroscopic anomalies detected in fetuses with normal karyotype, which was larger than the percentage of anomalies in any other chromosome. The 15 submicroscopic anomalies of chromosome 16 were identified in 14 cases; 12 of them had ultrasound abnormalities. They were classified as pathogenic (N = 7), and variants of uncertain significance (N = 8). Seven fetuses with variants of uncertain significance were ended in live-born, and the remaining were end in pregnancy termination. CONCLUSION: Submicroscopic aberrations of chromosome 16 are frequent findings in prenatal diagnosis, which emphasize the challenge of genetic counseling and the value of CMA. Prenatal diagnosis should lead to long-term monitoring of children with such chromosomal abnormalities for better understanding of the phenotype of chromosome 16 microdeletion and microduplication syndromes.
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spelling pubmed-66814932019-08-07 Submicroscopic aberrations of chromosome 16 in prenatal diagnosis Wu, Xiaoqing Xu, Liangpu Li, Ying Lin, Na Su, Linjuan Cai, Meiying Xie, Xiaorui Zheng, Lin Huang, Hailong Lin, Yuan Mol Cytogenet Research BACKGROUND: Nearly 9.89% of chromosome 16 consists of segmental duplications, which makes it prone to non-homologous recombination. The present study aimed to investigate the incidence and perinatal characteristics of submicroscopic chromosome 16 aberrations in prenatal diagnosis. RESULTS: A total of 2,414 consecutive fetuses that underwent prenatal chromosomal microarray analysis (CMA) between January 2016 and December 2018 were reviewed. Submicroscopic anomalies of chromosome 16 accounted for 11.1% (15/134) of all submicroscopic anomalies detected in fetuses with normal karyotype, which was larger than the percentage of anomalies in any other chromosome. The 15 submicroscopic anomalies of chromosome 16 were identified in 14 cases; 12 of them had ultrasound abnormalities. They were classified as pathogenic (N = 7), and variants of uncertain significance (N = 8). Seven fetuses with variants of uncertain significance were ended in live-born, and the remaining were end in pregnancy termination. CONCLUSION: Submicroscopic aberrations of chromosome 16 are frequent findings in prenatal diagnosis, which emphasize the challenge of genetic counseling and the value of CMA. Prenatal diagnosis should lead to long-term monitoring of children with such chromosomal abnormalities for better understanding of the phenotype of chromosome 16 microdeletion and microduplication syndromes. BioMed Central 2019-08-05 /pmc/articles/PMC6681493/ /pubmed/31391865 http://dx.doi.org/10.1186/s13039-019-0448-y 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
Wu, Xiaoqing
Xu, Liangpu
Li, Ying
Lin, Na
Su, Linjuan
Cai, Meiying
Xie, Xiaorui
Zheng, Lin
Huang, Hailong
Lin, Yuan
Submicroscopic aberrations of chromosome 16 in prenatal diagnosis
title Submicroscopic aberrations of chromosome 16 in prenatal diagnosis
title_full Submicroscopic aberrations of chromosome 16 in prenatal diagnosis
title_fullStr Submicroscopic aberrations of chromosome 16 in prenatal diagnosis
title_full_unstemmed Submicroscopic aberrations of chromosome 16 in prenatal diagnosis
title_short Submicroscopic aberrations of chromosome 16 in prenatal diagnosis
title_sort submicroscopic aberrations of chromosome 16 in prenatal diagnosis
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6681493/
https://www.ncbi.nlm.nih.gov/pubmed/31391865
http://dx.doi.org/10.1186/s13039-019-0448-y
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