ArticleFrontiers in genetics2019
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.
Article in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 4 of them syntheses 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.
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Who cites it
17 citing papers in PubMed, 4 syntheses or guidelines pooled it, 44 citations in OpenAlex.
- Incremental yield of prenatal exome sequencing in fetuses with skeletal system abnormalities: A systematic review and meta-analysis.Acta obstetricia et gynecologica Scandinavica · 2025Pooled it
- Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.Prenatal diagnosis · 2024Pooled it
- Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis.Prenatal diagnosis · 2022Pooled it
- Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2021Pooled it
- Article
- Advancing fetal diagnosis and prognostication using comprehensive prenatal phenotyping and genetic testing.Pediatric research · 2025Review
- MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.American journal of medical genetics. Part A · 2025Article
- A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome.Journal of human genetics · 2023Article
- Whole Exome-Trio Analysis Reveals Rare Variants Associated with Congenital Pouch Colon.Children (Basel, Switzerland) · 2023Article
- The new frontier: a case for whole exome sequencing with multiple fetal anomalies.Case reports in perinatal medicine · 2023Article
- Lessons learnt from prenatal exome sequencing.Prenatal diagnosis · 2022Article
- Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2022Review
- Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis.Journal of clinical medicine · 2021Review
- Review
- Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review.Diagnostics (Basel, Switzerland) · 2021Review
- Genetic diagnosis in the fetus.Journal of perinatology : official journal of the California Perinatal Association · 2020Review
- Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
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Authors and funding
16 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Prenatal ultrasound (US) abnormalities often pose a clinical dilemma and necessitate facilitated investigations in the search of diagnosis. The strategy of pursuing fetal whole-exome sequencing (WES) for pregnancies complicated by abnormal US findings is gaining attention, but the reported diagnostic yield is variable. In this study, we describe a tertiary center's experience with fetal WES from both terminated and ongoing pregnancies, and examine the clinical factors affecting the diagnostic rate. A total of 45 consecutive families of Jewish descent were included in the analysis, for which clinical fetal WES was performed under either single (fetus only), trio (fetus and parents) or quatro (two fetuses and parents) design. Except one, all families were non-consanguineous. In 41 of the 45 families, WES was sought following abnormal fetal US findings, and 18 of them had positive relevant family history (two or more fetuses with US abnormalities, or single fetus with US abnormalities and an affected parent). The overall diagnostic yield was 28.9% (13/45 families), and 31.7% among families with fetal US abnormalities (13/41). It was significantly higher in families with prenatal US abnormalities and relevant family history (10/18, 55.6%), compared to families with prenatal US abnormal findings and lack of such history (3/23, 13%) (
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