ArticleHuman genetics2023
Whole exome sequencing improves genetic diagnosis of fetal clubfoot.
Article in Human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 2 of them syntheses that pooled it.
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Who cites it
10 citing papers in PubMed, 2 syntheses or guidelines pooled it, 11 citations in OpenAlex.
- Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review.Prenatal diagnosis · 2026Pooled it
- KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report.Genes · 2024Pooled it
- Genetic analysis in fetuses with isolated clubfoot: diagnostic insights and added value.European journal of human genetics : EJHG · 2026Article
- A New Case ofClinics and practice · 2026Article
- Can Prenatal Ultrasound and Genetic Testing Reliably Exclude Non-Isolated Clubfoot?Prenatal diagnosis · 2026Article
- Genetics, epidemiology and management of clubfoot and related disorders.Genes & diseases · 2025Review
- Advancing fetal diagnosis and prognostication using comprehensive prenatal phenotyping and genetic testing.Pediatric research · 2025Review
- The Genetics of 241 Fetuses With Talipes Equinovarus: A 8-Year Monocentric Retrospective Study.Molecular genetics & genomic medicine · 2025Article
- Investigating clubfoot in Saudi Arabia: Prevalence, factors, and future directions.World journal of orthopedics · 2024Article
- Atypical fetal brain development in fetuses with non-syndromic isolated musculoskeletal birth defects (niMSBDs).Cerebral cortex (New York, N.Y. : 1991) · 2023Article
Corrections and comments
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Authors and funding
14 authors at 4 institutions in 1 country.
Funding
Abstract
objectiveThis retrospective study aimed to investigate the value of whole exome sequencing (WES) for clubfoot (CF) fetuses with or without other structural abnormalities and to further explore the genetic causes of fetal CF.
methodsthis study included 83 singleton pregnancies diagnosed with fetal CF referred to our center between January 2016 and March 2022; cases were divided into two groups: isolated CF and non-isolated CF. After excluding cases with positive karyotyping and chromosomal microarray analysis results, WES was performed for the eligible fetuses and parents. Monogenic variants detected by WES and perinatal outcomes were recorded and evaluated at postnatal follow-up.
resultsoverall, clinically significant variations were identified in 12.0% (10/83) of fetuses, and the detection rate was significantly higher in the non-isolated than in the isolated CF group (8/36, 22.2% vs. 2/47, 4.3%, p = 0.031). We additionally detected eight (9.6%) fetuses harboring variants of unknown significance. We identified 11 clinically significant variations correlating with clinical phenotypes in nine genes from ten fetuses, with KLHL40 being the most frequent (n = 2). Furthermore, we observed a significant difference in termination and survival rates between isolated and non-isolated CF cases (27.6 vs. 77.8% and 59.6 vs. 19.4%, p < 0.001 for both).
conclusionour data indicate that WES has a high additional diagnostic yield for the molecular diagnosis of fetal CF, markedly enhancing existing prenatal diagnostic capabilities and expanding our understanding of intrauterine genetic disorders, thus assisting us to better interpret fetal phenotype in the future.
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