ArticleAnnals of medicine2025
Utility of whole exome sequencing in the evaluation of isolated fetal growth restriction in normal chromosomal microarray analysis.
Article in Annals of medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 2 of them syntheses that pooled it.
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Who cites it
9 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review.Prenatal diagnosis · 2026Pooled it
- The Incremental Yield of CMA Over Karyotype in Fetal Growth Restriction-A Systematic Review and Meta-Analysis.Prenatal diagnosis · 2026Pooled it
- Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights.Prenatal diagnosis · 2026Article
- Whole-exome sequencing increases variant detection compared to karyotyping and CMA in an unselected FGR cohort.Scientific reports · 2026Article
- Comparative Diagnostic Assessment of Karyotyping, Microarray, and Whole Exome Sequencing in Genetically Associated Fetal Growth Restriction.Diagnostics (Basel, Switzerland) · 2026Article
- Severity-stratified genetic diagnosis by trio exome sequencing in isolated fetal growth restriction.Frontiers in genetics · 2026Article
- Application of High-Throughput Sequencing Technology in Fetal Growth Restriction and Analysis of Pregnancy Outcomes.International journal of women's health · 2026Article
- The Application Value of Chromosome Microarray Analysis in Prenatal Diagnosis of Clinically Relevant Copy Number Variations in Fetuses.International journal of women's health · 2026Article
- Detection of chromosomal and gene abnormality with karyotyping, chromosomal microarray analysis and trio-based whole exome sequencing in pregnancies with fetal growth restriction: implications for precise prenatal diagnosis.BMC pregnancy and childbirth · 2025Article
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6 authors.
Funding
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Abstract
objectiveTo investigate the application of whole exome sequencing (WES) in the prenatal diagnosis of isolated fetal growth restriction (FGR) with a normal result by chromosomal microarray analysis (CMA).
methodsThis retrospective study included singleton fetuses with isolated FGR in Guangdong Women and Children Hospital between July 2018 and August 2023. All fetuses were subjected to invasive prenatal testing with CMA and WES. Only cases with negative CMA results were included.
resultsr A total of 135 fetuses were included. Ultrasonography identified short long bones in 39 fetuses and nonshort long bones in 96 cases. WES revealed pathogenic/likely pathogenic (P/LP) variants in 16(11.9%) fetuses and variants of uncertain significance (VUS) in 2 (1.5%) fetuses. Compared to the nonshort long bones group, the short long bones group had a significantly higher detection rate of P/LP variants (33.3% [13/39] vs. 3.1% [3/96], p < 0.001, OR=15.5(4.1-58.5)). No significant differences were observed in the detection rates between severe FGR and nonsevere FGR (12.3% [13/106] vs. 10.3% [3/29], p= .000, OR=1.2(0.3-4.6)), or between the early-onset (12.9% [15/116]) and the late-onset group (5.3%[1/19],p =0.565, OR=2.7(0.3-21.5)).
conclusionsP/LP variants are more prevalent in fetuses with short long bones. WES is recommended for isolated FGR with short long bones, but further studies are needed to assess its utility in cases with nonshort long bones.
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