ArticleDiagnostics (Basel, Switzerland)2023
Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges.
Article in Diagnostics (Basel, Switzerland), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing.PloS one · 2025Pooled it
- Article
- Diagnostic performance of chromosomal microarray and whole exome sequencing in fetal structural anomalies: a single-center retrospective study.BMC pregnancy and childbirth · 2025Article
- Application of Whole-Exome Sequencing (WES) for Prenatal Determination of Causes of Fetal Abnormalities.Genes · 2025Article
- Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies.BMC pregnancy and childbirth · 2024Article
- Clinical and genetic features of Fanconi anemia associated with a variant of FANCA gene: Case report and literature review.Medicine · 2024Review
- Article
- Clinical and functional characterization ofBone reports · 2023Article
- Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience.Journal of personalized medicine · 2023Review
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Whole exome sequencing (WES) has become part of the postnatal diagnostic work-up of both pediatric and adult patients with a range of disorders. In the last years, WES is slowly being implemented in the prenatal setting as well, although some hurdles remain, such as quantity and quality of input material, minimizing turn-around times, and ensuring consistent interpretation and reporting of variants. We present the results of 1 year of prenatal WES in a single genetic center. Twenty-eight fetus-parent trios were analyzed, of which seven (25%) showed a pathogenic or likely pathogenic variant that explained the fetal phenotype. Autosomal recessive (4), de novo (2) and dominantly inherited (1) mutations were detected. Prenatal rapid WES allows for a timely decision-making in the current pregnancy, adequate counseling with the possibility of preimplantation or prenatal genetic testing in future pregnancies and screening of the extended family. With a diagnostic yield in selected cases of 25% and a turn-around time under 4 weeks, rapid WES shows promise for becoming part of pregnancy care in fetuses with ultrasound anomalies in whom chromosomal microarray did not uncover the cause.
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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.