Submicroscopic aberrations of chromosome 16 in prenatal diagnosis
Abstract 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...
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doaj-5033a2dd7bc1491298b95f89ee038fa62020-11-25T03:35:53ZengBMCMolecular Cytogenetics1755-81662019-08-011211710.1186/s13039-019-0448-ySubmicroscopic aberrations of chromosome 16 in prenatal diagnosisXiaoqing Wu0Liangpu Xu1Ying Li2Na Lin3Linjuan Su4Meiying Cai5Xiaorui Xie6Lin Zheng7Hailong Huang8Yuan Lin9Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children’s Hospital, affiliated Hospital of Fujian Medical UniversityFujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children’s Hospital, affiliated Hospital of Fujian Medical UniversityFujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children’s Hospital, affiliated Hospital of Fujian Medical UniversityFujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children’s Hospital, affiliated Hospital of Fujian Medical UniversityFujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children’s Hospital, affiliated Hospital of Fujian Medical UniversityFujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children’s Hospital, affiliated Hospital of Fujian Medical UniversityFujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children’s Hospital, affiliated Hospital of Fujian Medical UniversityFujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children’s Hospital, affiliated Hospital of Fujian Medical UniversityFujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children’s Hospital, affiliated Hospital of Fujian Medical UniversityFujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children’s Hospital, affiliated Hospital of Fujian Medical UniversityAbstract 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.http://link.springer.com/article/10.1186/s13039-019-0448-ySubmicroscopic aberrationsChromosome 16Chromosomal microarray analysisPrenatal diagnosis |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Xiaoqing Wu Liangpu Xu Ying Li Na Lin Linjuan Su Meiying Cai Xiaorui Xie Lin Zheng Hailong Huang Yuan Lin |
spellingShingle |
Xiaoqing Wu Liangpu Xu Ying Li Na Lin Linjuan Su Meiying Cai Xiaorui Xie Lin Zheng Hailong Huang Yuan Lin Submicroscopic aberrations of chromosome 16 in prenatal diagnosis Molecular Cytogenetics Submicroscopic aberrations Chromosome 16 Chromosomal microarray analysis Prenatal diagnosis |
author_facet |
Xiaoqing Wu Liangpu Xu Ying Li Na Lin Linjuan Su Meiying Cai Xiaorui Xie Lin Zheng Hailong Huang Yuan Lin |
author_sort |
Xiaoqing Wu |
title |
Submicroscopic aberrations of chromosome 16 in prenatal diagnosis |
title_short |
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_sort |
submicroscopic aberrations of chromosome 16 in prenatal diagnosis |
publisher |
BMC |
series |
Molecular Cytogenetics |
issn |
1755-8166 |
publishDate |
2019-08-01 |
description |
Abstract 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. |
topic |
Submicroscopic aberrations Chromosome 16 Chromosomal microarray analysis Prenatal diagnosis |
url |
http://link.springer.com/article/10.1186/s13039-019-0448-y |
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