Performance of First-Trimester Fetal Echocardiography in Diagnosing Fetal Heart Defects: Meta-analysis and Systematic Review
Abstract
OBJECTIVES: Early fetal echocardiography is becoming increasing common during the nuchal translucency scan period. The aim of this meta-analysis was to assess the accuracy of first-trimester fetal echocardiography in diagnosing congenital heart defects (CHDs). METHODS: The databases of PubMed, Embase, the Cochrane Library, and the Cumulative Index to Nursing and Allied Health Literature were systematically searched for the candidate articles, and the references of included studies were also examined. We recorded the characteristics of the included studies and assessed the quality of each study by the Quality Assessment of Diagnostic Accuracy Studies tool. The pooled sensitivity, specificity, positive likelihood ratio (PLR), negative likelihood ratio (NLR), diagnostic odds ratio (DOR), and area under the curve (AUC) were calculated with Meta-Disc version 1.4 software (Ramón y Cajal Hospital, Madrid, Spain). We also evaluated the publication bias by using Stata version 12.0 software (StataCorp, College Station, TX). RESULTS: This meta-analysis included 18 studies with 26,201 fetal hearts. The overall pooled sensitivity, specificity, PLR, and NLR were 0.750, 0.999, 392.95, and 0.277, respectively. The DOR and AUC were 1736.0 and 0.9331. The pooled sensitivity, specificity, PLR, NLR, DOR, and AUC for major CHDs were 0.838, 1.000, 725.69, 0.203, 5084.8, and 0.9617. CONCLUSIONS: First-trimester fetal echocardiography had high value in diagnosing CHDs, especially major CHDs.
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First-trimester early fetal echocardiography achieved a pooled sensitivity and specificity of 0.838 and 1.000, respectively, for diagnosing major fetal heart defects.
“This was also highlighted by a recent meta-analysis, which showed that first-trimester early fetal echocardiography achieved a pooled sensitivity and specificity of 0.838 and 1.000, respectively, for diagnosing major fetal heart defects [48].”
From First-Trimester Ultrasound: A Comparative Review of Guidelines (2026) · cites this paper as [48]
Cites
De Robertis, V., Rembouskos, G., Fanelli, T., Volpe, G., Muto, B., & Volpe, P. (2017) · Prenatal Diagnosis · doi:10.1002/pd.5067 · Cited by 37 · see citing works
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First-Trimester Ultrasound: A Comparative Review of Guidelines
Boureka, E., Tsakiridis, I., Michos, G., Liberis, A., Giouleka, S., Mamopoulos, A., Kalogiannidis, I., & Dagklis, T. (2026) · Diagnostics · doi:10.3390/diagnostics16111695
- Authors
- Yu, D., Sui, L., & Zhang, N.
- Affiliations
- Qingdao Women and Children's Hospital (CN)
- Corresponding author
- Yu, Dongmei
- Venue
- Journal of Ultrasound in Medicine
- Publisher
- Wiley
- Published
- 2019-08-29
- Volume
- 39
- Issue
- 3
- Pages
- 471-480
- ISSN
- 0278-4297 (ISSN-L)
- 1550-9613
- OpenAlex
- W2971191647
- Cited by
- 33
- References
- 1
- Citations by year
- 2026: 1 · 2025: 7 · 2024: 10 · 2023: 3 · 2022: 3 · 2021: 8 · 2020: 1
- FWCI
- 0.44
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Ultrasound in Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Epidemiology › Congenital Heart Disease Studies
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Congenital heart defects research
- Keywords
- congenital heart disease, major congenital heart defects, diagnostic accuracy, prenatal diagnosis, sensitivity and specificity
- MeSH terms
- Echocardiography, Female, Fetal Heart, Heart Defects, Congenital, Humans, Pregnancy, Pregnancy Trimester, First, Sensitivity and Specificity, Reproducibility of Results, Ultrasonography, Prenatal
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