ArticleJournal of perinatology : official journal of the California Perinatal Association2018
Whole-exome sequencing in fetuses with central nervous system abnormalities.
Article in Journal of perinatology : official journal of the California Perinatal Association, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.
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The trial behind it
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Who cites it
21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 45 citations in OpenAlex.
- Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis.European journal of human genetics : EJHG · 2024Pooled it
- Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.Prenatal diagnosis · 2024Pooled it
- NovelNeurology. Genetics · 2026Article
- Decoding structural birth defects through genomic landscapes: Innovative frameworks for diagnosis (Review).International journal of molecular medicine · 2026Review
- Insights in the underlying pathophysiology of brain malformations associated with VRK1-related syndrome derived from fetal neuropathology.Journal of neuropathology and experimental neurology · 2025Article
- Fetal Corpus Callosum Anomalies: A Review of Underlying Genetic Disorders and Prenatal Testing Options.Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine · 2025Review
- Application of Whole-Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System Abnormalities.Molecular genetics & genomic medicine · 2024Article
- Genetic etiology of agenesis of the corpus callosum: a retrospective single-center cohort analysis of 114 fetuses.Archives of gynecology and obstetrics · 2024Article
- Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.Molecular neurobiology · 2023Review
- TUBB3 and KIF21A in neurodevelopment and disease.Frontiers in neuroscience · 2023Review
- Exome sequencing as first-tier test for fetuses with severe central nervous system structural anomalies.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2022Article
- The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study.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
- Genetic heterogeneity in corpus callosum agenesis.Frontiers in genetics · 2022Review
- Prenatal exome sequencing: A useful tool for the fetal neurologist.Clinical genetics · 2022Article
- Adult-Onset Spinal Muscular Atrophy due to Mutations in theNeurology. Genetics · 2021Article
- Clinical application of whole-exome sequencing: A retrospective, single-center study.Experimental and therapeutic medicine · 2021Article
- Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review.Diagnostics (Basel, Switzerland) · 2021Review
- Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing.Brain communications · 2021Article
- Application of exome sequencing for prenatal diagnosis: a rapid scoping review.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveWe describe our experience with whole-exome sequencing (WES) in fetuses with central nervous system (CNS) abnormalities following a normal chromosomal microarray result.
methodsDuring the study period (2014-2017) 7 cases (9 fetuses) with prenatally diagnosed CNS abnormality, whose chromosomal microarray analysis was negative, were offered whole-exome sequencing analysis.
resultsA pathogenic or a likely pathogenic variant was found in 5 cases including a previously described, likely pathogenic de novo TUBA1A variant (Case #1); a previously described homozygous VRK1 variant (Case #2); an X-linked ARX variant (Case #3); a likely pathogenic heterozygous variant in the TUBB3 gene (Case #5). Finally, in two fetuses of the same couple (Case #6), a compound heterozygous state was detected, consisting of the NPHP1 gene deletion and a sequence variant of uncertain significance. Two additional cases had normal WES results.
conclusionWhole-exome sequencing may improve prenatal diagnosis in fetuses with CNS abnormalities.
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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.