ArticleNature2012
Non-invasive prenatal measurement of the fetal genome.
Article in Nature, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 152 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
152 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.The Cochrane database of systematic reviews · 2017Pooled it
- Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.Thyroid : official journal of the American Thyroid Association · 2015Guideline
- Chromosomal microarray versus karyotyping for prenatal diagnosis.The New England journal of medicine · 2012Trial
- Toward Small CNV Detection in NIPT: A Preliminary Analytical Evaluation of Sequencing Depth and Workflow Configuration.Diagnostics (Basel, Switzerland) · 2026Article
- Article
- Adapting Clinical Chemistry Plasma as a Source for Liquid Biopsies.medRxiv : the preprint server for health sciences · 2026Article
- Investigation of the protein corona and biodistribution profile of polymeric nanoparticles for intra-amniotic delivery.Biomaterials · 2025Article
- Advancing precision care in pregnancy through a treatable fetal findings list.American journal of human genetics · 2025Review
- Circulating eosinophil cell-free DNA as a noninvasive biomarker for perforated appendicitis in pediatric patients-a proof-of-concept study.Scientific reports · 2025Article
- Cytosolic nucleic acid sensing as driver of critical illness: mechanisms and advances in therapy.Signal transduction and targeted therapy · 2025Review
- Artificial intelligence and machine learning in cell-free-DNA-based diagnostics.Genome research · 2025Review
- NIPT of Maternal Plasma-Originated cfDNA: Applications and Guide for the Implementation.The application of clinical genetics · 2025Article
- Cell-free placental DNA: What do we really know?PLoS genetics · 2024Review
- Noninvasive fetal genotyping using deep neural networks.Briefings in bioinformatics · 2024Article
- High expression of SLC27A2 predicts unfavorable prognosis and promotes inhibitory immune infiltration in acute lymphoblastic leukemia.Translational oncology · 2024Article
- CelFiE-ISH: a probabilistic model for multi-cell type deconvolution from single-molecule DNA methylation haplotypes.Genome biology · 2024Article
- The technical and ethical framework of fetal therapy: past and current advances.Current stem cell reports · 2024Article
- Improving prenatal diagnosis through standards and aggregation.Prenatal diagnosis · 2024Review
- Effects of cell-free DNA on kidney disease and intervention strategies.Frontiers in pharmacology · 2024Review
- Method for the extraction of circulating nucleic acids based on MOF reveals cell-free RNA signatures in liver cancer.National science review · 2024Article
92 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
6 authors.
Funding
Abstract
The vast majority of prenatal genetic testing requires invasive sampling. However, this poses a risk to the fetus, so one must make a decision that weighs the desire for genetic information against the risk of an adverse outcome due to hazards of the testing process. These issues are not required to be coupled, and it would be desirable to discover genetic information about the fetus without incurring a health risk. Here we demonstrate that it is possible to non-invasively sequence the entire prenatal genome. Our results show that molecular counting of parental haplotypes in maternal plasma by shotgun sequencing of maternal plasma DNA allows the inherited fetal genome to be deciphered non-invasively. We also applied the counting principle directly to each allele in the fetal exome by performing exome capture on maternal plasma DNA before shotgun sequencing. This approach enables non-invasive exome screening of clinically relevant and deleterious alleles that were paternally inherited or had arisen as de novo germline mutations, and complements the haplotype counting approach to provide a comprehensive view of the fetal genome. Non-invasive determination of the fetal genome may ultimately facilitate the diagnosis of all inherited and de novo genetic disease.
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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.