ReviewDiagnostics (Basel, Switzerland)2021
Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review.
Review in Diagnostics (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
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
19 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- 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
- Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis.Prenatal diagnosis · 2022Pooled it
- Diagnostic yield of chromosomal microarray analysis and exome sequencing in fetuses with central nervous system anomalies, with long-term follow-up: a single-center study over a 17-year period.Archives of gynecology and obstetrics · 2026Article
- Experiences of Dutch parents undergoing prenatal genomic testing for fetal structural anomalies: A prospective qualitative analysis.Journal of genetic counseling · 2026Article
- Clinical outcomes after nondiagnostic prenatal exome sequencing: Need for balancing reassurance and residual risks in genetic counseling.Journal of genetic counseling · 2026Article
- Article
- Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.Prenatal diagnosis · 2025Article
- Fetal Hydrops: Genetic Dissection of an Unspecific Sonographic Finding-A Comprehensive Review.Diagnostics (Basel, Switzerland) · 2025Review
- Swarm learning with weak supervision enables automatic breast cancer detection in magnetic resonance imaging.Communications medicine · 2025Article
- Uncertain significance and molecular insights of CPLANE1 variants in prenatal diagnosis of Joubert syndrome: a case report.BMC pregnancy and childbirth · 2024Article
- Ethics of artificial intelligence in prenatal and pediatric genomic medicine.Journal of community genetics · 2024Article
- Not putting the cart before the horse: the complex social and ethical terrain of prenatal exome sequencing.European journal of human genetics : EJHG · 2023Article
- Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.Frontiers in genetics · 2023Article
- A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma-Systematic Review of the Literature, Meta-Analysis and Case Series.Diagnostics (Basel, Switzerland) · 2022Review
- Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.Genome medicine · 2022Article
- 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
- Information is power: The experiences, attitudes and needs of individuals who chose to have prenatal genomic sequencing for fetal anomalies.Prenatal diagnosis · 2022Article
- Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2022Review
- 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
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The introduction of Next Generation Sequencing (NGS) technologies has exerted a significant impact on prenatal diagnosis. Prenatal Exome Sequencing (pES) is performed with increasing frequency in fetuses with structural anomalies and negative chromosomal analysis. The actual diagnostic value varies extensively, and the role of incidental/secondary or inconclusive findings and negative results has not been fully ascertained. We performed a systematic literature review to evaluate the diagnostic yield, as well as inconclusive and negative-result rates of pES. Papers were divided in two groups. The former includes fetuses presenting structural anomalies, regardless the involved organ; the latter focuses on specific class anomalies. Available findings on non-informative or negative results were gathered as well. In the first group, the weighted average diagnostic yield resulted 19%, and inconclusive finding rate 12%. In the second group, the percentages were extremely variable due to differences in sample sizes and inclusion criteria, which constitute major determinants of pES efficiency. Diagnostic pES availability and its application have a pivotal role in prenatal diagnosis, though more homogeneity in access criteria and a consensus on clinical management of controversial information management is envisageable to reach widespread use in the near future.
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