ArticleHeliyon2022
Application of whole exome sequencing in fetal cases with skeletal abnormalities.
Article in Heliyon, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.
- Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.Frontiers in genetics · 2025Pooled it
- Diagnostic performance of chromosomal microarray and whole exome sequencing in fetal structural anomalies: a single-center retrospective study.BMC pregnancy and childbirth · 2025Article
- Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study.Acta obstetricia et gynecologica Scandinavica · 2025Article
- AAJP reports · 2024Article
- Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges.Diagnostics (Basel, Switzerland) · 2023Article
- Prenatal diagnosis of fetuses with ultrasound anomalies by whole-exome sequencing in Luoyang city, China.Frontiers in genetics · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objectives: To investigate the role of whole exome sequencing (WES) technology in fetuses with skeletal abnormalities (SKA) for establishing an appropriate clinical diagnosis and treatment path. Methods: From April 2019 to August 2020, eight special families were enrolled into the study. Their fetuses showed abnormal SKA by ultrasonic testing during pregnancy, but it is inconsistent with the normal results identified by chromosomal microarray analysis (CMA) of amniotic fluid or abortion. For further diagnosis, WES was performed to detect the causative genes mutations followed by Sanger sequencing. Results: Among of these eight fetuses with SKA, we found more than half of pathogenic mutations were in Conclusion: Our study reported several novel heterozygous mutations which expands the
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Registered trials
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