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Submicroscopic aberrations of chromosome 16 in prenatal diagnosis

Authors
  • Wu, Xiaoqing
  • Xu, Liangpu
  • Li, Ying
  • Lin, Na
  • Su, Linjuan
  • Cai, Meiying
  • Xie, Xiaorui
  • Zheng, Lin
  • Huang, Hailong
  • Lin, Yuan
Type
Published Article
Journal
Molecular Cytogenetics
Publisher
Springer (Biomed Central Ltd.)
Publication Date
Aug 05, 2019
Volume
12
Issue
1
Identifiers
DOI: 10.1186/s13039-019-0448-y
Source
Springer Nature
Keywords
License
Green

Abstract

BackgroundNearly 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.ResultsA 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.ConclusionSubmicroscopic 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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