ReviewCold Spring Harbor perspectives in medicine2015
Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders.
Review in Cold Spring Harbor perspectives in medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis 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
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 60 citations in OpenAlex.
- Pooled it
- Copy Number Variant Detection by NIPT: Biological Constraints and the Limits of Prenatal Genomic Inference.Genes · 2026Review
- CRISPR/Cas-Based Prenatal Screening for Aneuploidy: Challenges and Opportunities for Early Diagnosis.Medicina (Kaunas, Lithuania) · 2025Review
- Attitudes toward uncertain results from prenatal exome sequencing: a national survey among healthcare professionals working in the prenatal setting.Frontiers in medicine · 2024Article
- Fetal gene therapy.Journal of inherited metabolic disease · 2024Review
- Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis.BMC medical genomics · 2023Article
- How to choose a test for prenatal genetic diagnosis: a practical overview.American journal of obstetrics and gynecology · 2023Article
- Genetics in prenatal diagnosis.Singapore medical journal · 2023Review
- Review
- Review
- Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review.Diagnostics (Basel, Switzerland) · 2021Review
- Is preparation a good reason for prenatal genetic testing? Ethical and critical questions.Birth defects research · 2020Article
- Accuracy of in-utero MRI to detect fetal brain abnormalities and prognosticate developmental outcome: postnatal follow-up of the MERIDIAN cohort.The Lancet. Child & adolescent health · 2020Article
- Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation.Fetal diagnosis and therapy · 2020Article
- Genetic approaches to metabolic bone diseases.British journal of clinical pharmacology · 2019Review
- Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.Frontiers in genetics · 2019Article
- Development of a rapid functional assay that predicts GLUT1 disease severity.Neurology. Genetics · 2018Article
- Novel mutation inClinical case reports · 2018Article
- Nervous System Malformations.Continuum (Minneapolis, Minn.) · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
New sequencing methods capable of rapidly analyzing the genome at increasing resolution have transformed diagnosis of single-gene or oligogenic genetic disorders in pediatric and adult medicine. Targeted tests, consisting of disease-focused multigene panels and diagnostic exome sequencing to interrogate the sequence of the coding regions of nearly all genes, are now clinically offered when there is suspicion for an undiagnosed genetic disorder or cancer in children and adults. Implementation of diagnostic exome and genome sequencing tests on invasively and noninvasively obtained fetal DNA samples for prenatal genetic diagnosis is also being explored. We predict that they will become more widely integrated into prenatal care in the near future. Providers must prepare for the practical, ethical, and societal dilemmas that accompany the capacity to generate and analyze large amounts of genetic information about the fetus during pregnancy.
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What OpenQuestion holds
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.