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The Value of Four-Dimensional Ultrasound in Diagnosing Fetal Congenital Heart Disease: A Systematic Review and Meta-Analysis

Yuanyuan Li1, Xingyue Wang1, Yucan Deng1, Runfang Tian1, Jinfeng Zhao1, Li Liu2,*, Panpan Sun3,*, Zhiguang Ping1,3,*
1 College of Public Health, Zhengzhou University, Zhengzhou, 450001, China
2 School of Basic Medical Sciences, Zhengzhou University, Zhengzhou, 450001, China
3 Institute of Reproductive Health, Henan Academy of Innovations in Medical Science, National Health Commission Key Laboratory of Birth Defects Prevention, Zhengzhou 450000, China
* Corresponding Author: Li Liu. Email: email; Panpan Sun. Email: email; Zhiguang Ping. Email: email
(This article belongs to the Special Issue: Prenatal Diagnosis of Congenital Heart Disease)

Congenital Heart Disease https://doi.org/10.32604/chd.2026.075611

Received 04 November 2025; Accepted 21 January 2026; Published online 05 February 2026

Abstract

Background: Four-dimensional (4D) ultrasound is increasingly being used for prenatal diagnosis of congenital heart disease (CHD). We aimed to perform a systematic review and meta-analysis to evaluate its diagnostic accuracy for fetal CHD. Methods: This systematic review was conducted in accordance with the PRISMA-DTA guidelines. We systematically searched eight databases for studies published up to July 22, 2025. Data were extracted to calculate diagnostic accuracy metrics, study quality was assessed using QUADAS-2, and a bivariate random-effects model was used for the meta-analysis. Results: A total of 49 studies were included, comprising 45 retrospective and 4 prospective studies, which were mainly (91.8%) conducted in China. These studies involved 23,397 fetuses, among which 2115 were diagnosed with congenital heart disease. The pooled sensitivity of 4D ultrasound for diagnosing fetal congenital heart disease was 0.91 (95% CI: 0.89–0.93), the pooled specificity was 0.98 (95% CI: 0.97–0.99), and the area under the summary receiver operating characteristic (SROC) curve (AUC) was 0.98 (95% CI: 0.96–0.99). Although 4D ultrasound technology can be implemented as early as 11 weeks of gestation, its diagnostic sensitivity and specificity reached a superior level and stabilized at an average of 20 weeks of gestation (range 14–28 weeks). Meta-regression indicated that sample size and prior suspicion of fetal CHD were significant contributors to heterogeneity (p < 0.05). Conclusion: Four-dimensional ultrasound has high diagnostic efficacy for fetal CHD and is suitable for prenatal screening of fetal CHD, and the diagnostic effect is optimal and stable at an average gestational age of 20 weeks (range 14–28 weeks).

Keywords

Four-dimensional ultrasound; congenital heart disease; prenatal diagnosis; diagnostic accuracy; meta-analysis
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