Evidence map›Paper›PMID 37196360›Full record

ReviewAnnual review of biomedical data science2023

Noninvasive Prenatal Testing Using Circulating DNA and RNA: Advances, Challenges, and Possibilities.

Mira N Moufarrej, Diana W Bianchi, Gary M Shaw, David K Stevenson, Stephen R Quake

Abstract readReview
In one paragraph

Review in Annual review of biomedical data science, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 2 pooled it
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

22 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Review
  5. Review
  6. Article
  7. Review
  8. Cell-Free DNA and Mitochondria in Parkinson's Disease.International journal of molecular sciences · 2025
    Review
  9. Review
  10. Review
  11. Article
  12. Review
  13. Article
  14. Article
  15. Article
  16. Review
  17. [Burden of congenital birth defects in children under five in China from 1990 to 2021 and prediction of future trend].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025
    Article
  18. Article
  19. Review
  20. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Mira N MoufarrejThe Column Group, San Francisco, California, USA; email: miramou@cs.stanford.edu.
Diana W BianchiEunice Kennedy Shriver National Institute of Child Health and Human Development and Section on Prenatal Genomics and Fetal Therapy, Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Gary M ShawDepartment of Pediatrics and March of Dimes Prematurity Research Center at Stanford University, Stanford University School of Medicine, Stanford, California, USA.
David K StevensonDepartment of Pediatrics and March of Dimes Prematurity Research Center at Stanford University, Stanford University School of Medicine, Stanford, California, USA.
Stephen R QuakeDepartment of Bioengineering and Department of Applied Physics, Stanford University, Stanford, California, USA.

Funding

Sequence Analysis of Circulating Cell-free DNA During PregnancyZIAHG200400 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BIANCHI, DIANA · 2018 to 2025
$524k
Intramural NIH HHS ZIA HG200400
6 · The paper itself

Abstract

Prenatal screening using sequencing of circulating cell-free DNA has transformed obstetric care over the past decade and significantly reduced the number of invasive diagnostic procedures like amniocentesis for genetic disorders. Nonetheless, emergency care remains the only option for complications like preeclampsia and preterm birth, two of the most prevalent obstetrical syndromes. Advances in noninvasive prenatal testing expand the scope of precision medicine in obstetric care. In this review, we discuss advances, challenges, and possibilities toward the goal of providing proactive, personalized prenatal care. The highlighted advances focus mainly on cell-free nucleic acids; however, we also review research that uses signals from metabolomics, proteomics, intact cells, and the microbiome. We discuss ethical challenges in providing care. Finally, we look to future possibilities, including redefining disease taxonomy and moving from biomarker correlation to biological causation.

Indexed as

Cell-Free Nucleic AcidsNoninvasive Prenatal TestingPremature BirthAneuploidyFemaleGenetic TestingHumansInfant, NewbornPregnancyRNACell-Free Nucleic AcidsRNAcfDNAcfRNAgenomicsliquid biopsyNIPTnoninvasive prenatal testingprenatal care

Identifiers

PMID37196360
PMCPMC10528197

What OpenQuestion holds

Textmetadata
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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.