ArticleBMC medical genomics2023
Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases.
Article in BMC medical genomics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 24 citations in OpenAlex.
- Comparison of Whole Exome Sequencing Commercial Kits Performance Across Diverse Tissue Sources.International journal of molecular sciences · 2026Article
- Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies.Journal of medical genetics · 2026Article
- Prenatal phenotypic delineation of a de novo EYA1 likely pathogenic variant in branchio-oto-renal syndrome.BMC medical genomics · 2026Article
- Decoding structural birth defects through genomic landscapes: Innovative frameworks for diagnosis (Review).International journal of molecular medicine · 2026Review
- Application of chromosomal microarray analysis for prenatal diagnosis in 315 ultrasonically abnormal fetuses.Frontiers in genetics · 2026Article
- Article
- Management, Outcome, Risk, and Expectation classification for structural fetal anomalies to aid antenatal counseling: a prospective validation study.Pediatric surgery international · 2025Article
- Diagnostic performance of chromosomal microarray and whole exome sequencing in fetal structural anomalies: a single-center retrospective study.BMC pregnancy and childbirth · 2025Article
- Prenatal trio-based whole exome sequencing in fetuses with congenital pulmonary airway malformation.Translational pediatrics · 2025Article
- Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis SyndromeAustralasian journal of ultrasound in medicine · 2025Article
- Navigating women with congenital heart disease during pregnancy: Management strategies and future directions.World journal of cardiology · 2025Review
- Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases.Frontiers in genetics · 2025Article
- The evolution of prenatal Whole Exome Sequencing: from cytogenetics to precision medicine.Archive of clinical cases · 2025Review
- Uncertain significance and molecular insights of CPLANE1 variants in prenatal diagnosis of Joubert syndrome: a case report.BMC pregnancy and childbirth · 2024Article
- Identification of four TTN variants in three families with fetal akinesia deformation sequence.BMC medical genomics · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWhole-exome sequencing (WES) significantly improves the diagnosis of the etiology of fetal structural anomalies. This study aims to evaluate the diagnostic value of prenatal WES and to investigate the pathogenic variants in structurally abnormal fetuses.
methodsWe recruited 144 fetuses with structural anomalies between 14 and 2020 and 15 December 2021 in the study. Genetic screening was performed by WES combined with karyotyping and chromosomal microarray analysis. The molecular diagnostic yield of prenatal WES for each type of fetal structural anomaly and the identified pathogenic genes and mutations were reported.
resultsIn this study, we retrospectively analyzed the clinical and genetic data of 145 structurally anomalous fetuses. These cases were classified into 9 phenotypic classes based on antenatal ultrasound findings. Thirty-eight pathogenic variants in 24 genes were identified in 35 of the 145 cases, including 14 novel variants in 13 genes (EP300, MYH3, TSC2, MMP9, CPLANE1, INVS, COL1A1, EYA1, TTC21B, MKS1, COL11A2, PDHA1 and L1CAM). Five additional pathogenic variants were classified as incidental findings. Our study showed that the overall diagnosis rate of WES was 28.1% (27/96) in the parent-fetus trio cases and 16.3% (8/49) in the proband-only cases. Fetuses with musculoskeletal anomalies had the highest diagnostic yield (51.4%, 19/37). In addition, FGFR3 and COL1A1 were the most common pathogenic genes.
conclusionsOur work expands the mutation spectrum of the genes associated with fetal structural anomalies and provides valuable information for future parental genetic counselling and pregnancy management of the structurally anomalous fetuses.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.