ArticleThe New England journal of medicine2012
Clinical diagnosis by whole-genome sequencing of a prenatal sample.
Article in The New England journal of medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 87 papers, 1 of them a synthesis that pooled it.
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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.
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
87 citing papers in PubMed, 1 synthesis or guideline pooled it, 197 citations in OpenAlex.
- Precision medicine in women with epilepsy: The challenge, systematic review, and future direction.Epilepsy & behavior : E&B · 2021Pooled it
- The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine.Trials · 2014Trial
- Characterization of rare genomic structural variants across 2,981 genomes reveals significant involvements in recessive conditions.Science China. Life sciences · 2026Article
- Prenatal Whole-Genome Sequencing for Fetal Anomalies: Diagnostic Performance, Challenges, and Clinical Implications.International journal of molecular sciences · 2026Review
- Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis.Scientific reports · 2025Article
- International Society for Prenatal Diagnosis 2024 Debate 3-Cytogenetics Is a Dinosaur and Should Be Replaced by Molecular Technologies.Prenatal diagnosis · 2025Review
- The Platinum Pedigree: a long-read benchmark for genetic variants.Nature methods · 2025Article
- Endothelial defects unveil cardiovascular phenotype in iPSC-based disease modelling across three generations of a DiGeorge syndrome family.Research square · 2025Article
- Diversity and consequences of structural variation in the human genome.Nature reviews. Genetics · 2025Review
- Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.The Australian & New Zealand journal of obstetrics & gynaecology · 2024Article
- Applications of genome sequencing as a single platform for clinical constitutional genetic testing.Genetics in medicine open · 2024Review
- Genomic insights into prenatal diagnosis of congenital heart defects: value of CNV-seq and WES in clinical practice.Frontiers in genetics · 2024Article
- The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.International journal of molecular sciences · 2023Review
- Genetics in prenatal diagnosis.Singapore medical journal · 2023Review
- Emerging technologies for prenatal diagnosis: The application of whole genome and RNA sequencing.Prenatal diagnosis · 2022Review
- Prenatal exomes and genomes - so much new and so much more to learn.Prenatal diagnosis · 2022Article
- Nanostructures in non-invasive prenatal genetic screening.Biomedical engineering letters · 2022Review
- Article
- Detection of a Cryptic 25 bp Deletion and a 269 Kb Microduplication by Nanopore Sequencing in a Seemingly Balanced Translocation Involving the LMLN and LOC105378102 Genes.Frontiers in genetics · 2022Article
- Assessment of Combined Karyotype Analysis and Chromosome Microarray Analysis in Prenatal Diagnosis: A Cohort Study of 3710 Pregnancies.Genetics research · 2022Article
27 more citing papers are in PubMed but not listed here.
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Authors and funding
15 authors at 7 institutions in 1 country.
Funding
Abstract
Conventional cytogenetic testing offers low-resolution detection of balanced karyotypic abnormalities but cannot provide the precise, gene-level knowledge required to predict outcomes. The use of high-resolution whole-genome deep sequencing is currently impractical for the purpose of routine clinical care. We show here that whole-genome "jumping libraries" can offer an immediately applicable, nucleotide-level complement to conventional genetic diagnostics within a time frame that allows for clinical action. We performed large-insert sequencing of DNA extracted from amniotic-fluid cells with a balanced de novo translocation. The amniotic-fluid sample was from a patient in the third trimester of pregnancy who underwent amniocentesis because of severe polyhydramnios after multiple fetal anomalies had been detected on ultrasonography. Using a 13-day sequence and analysis pipeline, we discovered direct disruption of CHD7, a causal locus in the CHARGE syndrome (coloboma of the eye, heart anomaly, atresia of the choanae, retardation, and genital and ear anomalies). Clinical findings at birth were consistent with the CHARGE syndrome, a diagnosis that could not have been reliably inferred from the cytogenetic breakpoint. This case study illustrates the potential power of customized whole-genome jumping libraries when used to augment prenatal karyotyping.
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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.