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Erschienen in:

07.01.2023 | Review

Chromosomal abnormalities in fetuses with congenital heart disease: a meta-analysis

verfasst von: Huaming Wang, Xi Lin, Guorong Lyu, Shaozheng He, Bingtian Dong, Yiru Yang

Erschienen in: Archives of Gynecology and Obstetrics | Ausgabe 3/2023

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Abstract

Purpose

The aim of this meta-analysis was to evaluate the risk of chromosomal abnormalities in fetuses with congenital heart disease (CHD).

Methods

Four literature databases were searched until 17th January 2022 using the relevant medical subject heading terms, word variants, and keywords for “congenital heart defect, fetal, and chromosomal abnormalities”. The prevalence of overall chromosomal abnormality, aneuploidy, 22q11 deletion, other copy number variants (CNVs), and variants of unknown significance (VOUS) was analyzed.

Results

45 studies met the inclusion criteria for the analysis. The pooled proportion of overall chromosomal abnormalities, aneuploidy, 22q11 deletion, and other CNVs in fetuses with CHD was 23% (95% CI: 20–26%), 19% (95% CI, 16–22%), 2% (95% CI, 2–3%), and 4% (95% CI, 3–5%), respectively. The incidence of overall chromosomal abnormalities, aneuploidy, and other CNVs in non-isolated CHD was higher than in isolated CHD, with odds ratios of 3.08, 3.45, and 4.02, respectively. The incidence of overall chromosomal abnormalities in septal defects was higher than in conotruncal defects and other defects, with odds ratios of 1.60 and 3.61, respectively. In addition, the pooled proportion of VOUS in CHD was 4%.

Conclusion

CHD is commonly associated with chromosomal abnormalities. If karyotyping or fluorescence in situ hybridization is normal, chromosomal microarray should be performed to look for submicroscopic abnormalities, especially in fetuses with non-isolated CHD and septal defects.
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Metadaten
Titel
Chromosomal abnormalities in fetuses with congenital heart disease: a meta-analysis
verfasst von
Huaming Wang
Xi Lin
Guorong Lyu
Shaozheng He
Bingtian Dong
Yiru Yang
Publikationsdatum
07.01.2023
Verlag
Springer Berlin Heidelberg
Erschienen in
Archives of Gynecology and Obstetrics / Ausgabe 3/2023
Print ISSN: 0932-0067
Elektronische ISSN: 1432-0711
DOI
https://doi.org/10.1007/s00404-023-06910-3

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