Open Access
Open access
Springer Nature
Molecular Cytogenetics
,  volume 17 ,  issue 1 ,  publication number 3

Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study

Chenxia Xu 1
, 
Miaoyuan Li 2, 3
, 
Tiancai Gu 1
, 
Fenghua Xie 1
, 
YANFANG ZHANG 1
, 
Degang Wang 1, 4
, 
Jianming Peng 1
1
 
Prenatal Diagnosis Center, Boai Hospital of Zhongshan, Zhongshan, China | 
2
 
Department of Urology, The People’s Hospital of Zhongshan, Zhongshan, China | 
3
 
4
 
Publication type: Journal Article
Publication date: 2024-01-30
Springer Nature
scimago Q3
wos Q4
SJR: 0.408
CiteScore: 2.8
Impact factor: 1.4
ISSN: 17558166
Biochemistry
Molecular Biology
Genetics
Molecular Medicine
Genetics (clinical)
Biochemistry (medical)
Abstract
Background

Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD). This retrospective study examines fetuses undergoing invasive prenatal diagnosis through Affymetrix CytoScan 750 K array analysis. We evaluated both chromosome G-banding karyotyping data and CMA results from 2007 cases subjected to amniocentesis.

Results

The detection rate of regions of homozygosity (ROH) ≥ 10 Mb was 1.8% (33/2007), with chromosome 11 being the most frequently implicated (17.1%, 6/33). There were three cases where UPD predicted an abnormal phenotype based on imprinted gene expression.

Conclusion

The integration of UPD detection by CMA offers a more precise approach to prenatal genetic diagnosis. CMA proves effective in identifying ROH and preventing the birth of children affected by imprinting diseases.

Found 
Found 

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GOST Copy
Xu C. et al. Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study // Molecular Cytogenetics. 2024. Vol. 17. No. 1. 3
GOST all authors (up to 50) Copy
Xu C., Li M., Gu T., Xie F., ZHANG Y., Wang D., Peng J. Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study // Molecular Cytogenetics. 2024. Vol. 17. No. 1. 3
RIS |
Cite this
RIS Copy
TY - JOUR
DO - 10.1186/s13039-023-00668-8
UR - https://doi.org/10.1186/s13039-023-00668-8
TI - Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study
T2 - Molecular Cytogenetics
AU - Xu, Chenxia
AU - Li, Miaoyuan
AU - Gu, Tiancai
AU - Xie, Fenghua
AU - ZHANG, YANFANG
AU - Wang, Degang
AU - Peng, Jianming
PY - 2024
DA - 2024/01/30
PB - Springer Nature
IS - 1
VL - 17
PMID - 38291465
SN - 1755-8166
ER -
BibTex
Cite this
BibTex (up to 50 authors) Copy
@article{2024_Xu,
author = {Chenxia Xu and Miaoyuan Li and Tiancai Gu and Fenghua Xie and YANFANG ZHANG and Degang Wang and Jianming Peng},
title = {Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study},
journal = {Molecular Cytogenetics},
year = {2024},
volume = {17},
publisher = {Springer Nature},
month = {jan},
url = {https://doi.org/10.1186/s13039-023-00668-8},
number = {1},
pages = {3},
doi = {10.1186/s13039-023-00668-8}
}