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

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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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Data availability

The datasets supporting the conclusions of this article are included within the article and its additional files. Further inquiries can be directed to the corresponding author.

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Funding

This work was supported by the Qihang Fund of Fujian Medical University [grant number 2020QH2039] and the Collaborative Innovation Center of Maternal and Child Health Service Technology from Fujian Medical College [grant number XJM1802].

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Authors and Affiliations

  1. Department of Ultrasound, The Second Affiliated Hospital of Fujian Medical University, Zhongshan Load, Quanzhou, Fujian, China

    Huaming Wang, Guorong Lyu, Shaozheng He, Bingtian Dong & Yiru Yang

  2. Department of Diagnostic Radiology, Fujian Cancer Hospital of Fujian Medical University, Fuzhou, Fujian, China

    Xi Lin

  3. Collaborative Innovation Center of Maternal and Child Health Service Technology, Quanzhou Medical College, Quanzhou, China

    Guorong Lyu

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  1. Huaming Wang
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Contributions

All authors had full access to all of the data in this study and take responsibility for the integrity of the data and the accuracy of the data analysis. HW: was involved in study design, search in databases, analysis, and interpretation of data, manuscript drafting, and critical discussion. GL: was involved in the study design, critical discussion, and revising of the manuscript. XL: was involved in searching databases and analyzing and interpreting data. SH: was involved in data extraction and statistical analysis. BD: was involved in the search for databases and manuscript drafting. YY: was involved in statistical analysis and study supervision. All authors read and approved the final manuscript.

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Correspondence to Guorong Lyu.

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Wang, H., Lin, X., Lyu, G. et al. Chromosomal abnormalities in fetuses with congenital heart disease: a meta-analysis. Arch Gynecol Obstet 308, 797–811 (2023). https://doi.org/10.1007/s00404-023-06910-3

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