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Updated: Aug 15, 2025

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System
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Chromosomal abnormalities in fetuses with congenital heart disease: a meta-analysis

Huaming Wang1, Xi Lin2, Guorong Lyu3,4

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

Archives of Gynecology and Obstetrics
|January 7, 2023
PubMed

Insights

Congenital heart disease (CHD) in fetuses is frequently linked to chromosomal abnormalities. Further genetic testing like chromosomal microarray is recommended for non-isolated CHD and septal defects.

Area of Science:

  • Medical Genetics
  • Fetal Medicine
  • Cardiology

Background:

  • Congenital heart disease (CHD) is a significant concern in fetal development.
  • Chromosomal abnormalities are known risk factors associated with CHD.
  • Evaluating the precise risk and types of chromosomal abnormalities in fetuses with CHD is crucial for accurate diagnosis and management.

Approach:

  • A comprehensive meta-analysis was conducted, synthesizing data from 45 studies.
  • Literature databases were systematically searched up to January 2022 for studies on fetal CHD and chromosomal abnormalities.
  • Prevalence of overall chromosomal abnormalities, aneuploidy, 22q11 deletion, copy number variants (CNVs), and variants of unknown significance (VOUS) were analyzed.

Key Points:

  • The pooled prevalence of chromosomal abnormalities in fetuses with CHD was 23%, with aneuploidy at 19%.
  • Non-isolated CHD showed significantly higher rates of chromosomal abnormalities (ORs 3.08-4.02) compared to isolated CHD.
  • Septal defects had a higher incidence of chromosomal abnormalities (ORs 1.60-3.61) than conotruncal and other defect types.

Conclusions:

  • Congenital heart disease is strongly associated with chromosomal abnormalities.
  • Chromosomal microarray is recommended for detecting submicroscopic abnormalities when karyotyping or FISH is normal, particularly in non-isolated CHD and septal defects.
  • These findings underscore the importance of genetic evaluation in fetuses diagnosed with CHD.
Abstract

Keywords:
AneuploidyChromosomal abnormalitiesCongenital heart diseaseCopy number variantsPrenatal

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