ArticleNature medicine2019
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Erratum issuedAbstract read
In one paragraph
Article in Nature medicine, 2019. 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 125 papers, 4 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
125citing papers in PubMed, 4 pooled it
–field-weighted citation impact
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
125 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Rare cases in two Chinese MEN2A families with RET C634Y germline mutation-a homozygous female patient and heterozygous identical twins: a systematic review of literature.Frontiers in endocrinology · 2026Pooled it
- Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell-Free DNA? A Systematic Literature Review.Prenatal diagnosis · 2025Pooled it
- Presentation of multiple endocrine neoplasia type 2A-associated ectopic cushing's syndrome: case report and a systematic review.Frontiers in endocrinology · 2025Pooled it
- Interventions for Infection and Inflammation-Induced Preterm Birth: a Preclinical Systematic Review.Reproductive sciences (Thousand Oaks, Calif.) · 2023Pooled it
- Enhancing Prenatal Genetic Evaluation Through the Combination of Single-Gene Non-Invasive Prenatal Screening and Prenatal Imaging.Prenatal diagnosis · 2026Review
- High-efficiency isolation of fetal nucleated red blood cells for non-invasive prenatal diagnosisRSC advances · 2026Article
- Prenatal diagnosis of Apert syndrome caused by a de novo FGFR2 mutation in the second trimester: a case report.BMC pregnancy and childbirth · 2026Article
- Single-nucleotide variant profiling in liquid biopsy with RECO-Cas.Science advances · 2026Article
- Diagnosed After Birth-But Detectable Before? A Cohort Study of Prenatal Testing Potential.Prenatal diagnosis · 2026Article
- The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations.Prenatal diagnosis · 2026Review
- Discrepant Results on Two Different Single Gene Non-invasive Prenatal Tests for Cystic Fibrosis: A Case Report.AJP reports · 2026Article
- Chromatin Accessibility in Cancer: Biological Functions, Mechanisms, Therapeutic Potential, and Future Directions.MedComm · 2026Review
- Promoter landscape of maternal plasma DNA reveals predictive signatures of fetal growth restriction.Human genomics · 2026Article
- Article
- A prospective study of non-invasive prenatal screening technology in preimplantation genetic testing cycles.Frontiers in medicine · 2026Article
- Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.Genome medicine · 2025Article
- Expanding the scope of non-invasive prenatal screening.Nature genetics · 2025Review
- Advancements in Prenatal Genetic Screening and Testing: Emerging Technologies and Evolving Applications.Diagnostics (Basel, Switzerland) · 2025Review
- Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit.Prenatal diagnosis · 2025Article
- Beyond the Blood Cell: The Emerging Role of Cell-Free DNA in Transfusion Medicine.Journal of hematology · 2025Review
65 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
31 authors.
Jinglan ZhangDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. jinglanz@bcm.edu.ORCID http://orcid.org/0000-0002-4600-7123
Jianli LiBaylor Genetics, Houston, TX, USA.
Jennifer B SaucierNatera, Inc., San Carlos, CA, USA.
Yanming FengBaylor Genetics, Houston, TX, USA.
Yanjun JiangBaylor Genetics, Houston, TX, USA.
Jefferson SinsonBaylor Genetics, Houston, TX, USA.
Anne K McCombsOffice of Clinical Research, Baylor College of Medicine, Houston, TX, USA.
Eric S SchmittBaylor Genetics, Houston, TX, USA.ORCID http://orcid.org/0000-0002-4098-1275
Sandra PeacockBaylor Genetics, Houston, TX, USA.
Stella ChenBaylor Genetics, Houston, TX, USA.
Hongzheng DaiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Xiaoyan GeDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Guoli WangBaylor Genetics, Houston, TX, USA.
Chad A ShawDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Hui MeiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Amy BremanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0003-0299-0100
Fan XiaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Yaping YangDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Anne PurgasonBaylor Genetics, Houston, TX, USA.
Alan PourpakBaylor Genetics, Houston, TX, USA.
Zhao ChenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Xia WangDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Yue WangDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Shashikant KulkarniDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Kwong Wai ChoyDepartment of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
Ronald J WapnerDepartment of Obstetrics and Gynecology, Columbia University, New York, NY, USA.
Ignatia B Van den VeyverDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Arthur BeaudetDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Sheetal ParmarNatera, Inc., San Carlos, CA, USA.
Lee-Jun WongDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Christine M EngDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Current non-invasive prenatal screening is targeted toward the detection of chromosomal abnormalities in the fetus
Indexed as
Abnormalities, MultipleAchondroplasiaAcrocephalosyndactyliaAdultBone and BonesCell-Free Nucleic AcidsCollagen Type ICollagen Type I, alpha 1 ChainDe Lange SyndromeFemaleGenetic Diseases, InbornHigh-Throughput Nucleotide SequencingHumansHydrops FetalisLymphangioma, CysticNuchal Translucency MeasurementCell-Free Nucleic AcidsCollagen Type ICollagen Type I, alpha 1 Chain
Identifiers
PMID
30692697What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
None linked
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.