Evidence map›Paper›PMID 39774314›Full record

Observational studyThe New England journal of medicine2024

Prenatal cfDNA Sequencing and Incidental Detection of Maternal Cancer.

Amy E Turriff, Christina M Annunziata, Ashkan A Malayeri, Bernadette Redd, Miroslava Pavelova, Ian S Goldlust, Padma Sheila Rajagopal, Jielu Lin, Diana W Bianchi

Registry-linked trialAbstract readMulticenter StudyObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in The New England journal of medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04049604 (Incidental Detection of Maternal Neoplasia Through Non-invasive Cell-Free DNA Analysis), which is not on this map. Cited by 24 papers.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
–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.

NCT04049604 narecruitingnot on this map

Incidental Detection of Maternal Neoplasia Through Non-invasive Cell-Free DNA Analysis (IDENTIFY), a Natural History Study

TypeinterventionalSponsorNational Human Genome Research Institute (NHGRI)Ran2019 to 2029Enrolled365ConditionsMaternal NeoplasiaArmsNIPT
3 · Its place in the literature

Who cites it

24 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Article
  6. Colorectal Cancer Treatment During Pregnancy.Journal of the advanced practitioner in oncology · 2026
    Article
  7. Article
  8. Single-cell-based non-invasive screening for fetal pathogenic microimbalances using maternal blood: comparison with invasive prenatal diagnosis.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2026
    Observational
  9. Article
  10. Article
  11. Article
  12. Review
  13. Article
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  15. Article
  16. Article
  17. Review
  18. Review
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  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors.

Amy E TurriffFrom the Prenatal Genomics and Therapy Section, Center for Precision Health Research (A.E.T., D.W.B.), and the Section on Social Network Methods, Social and Behavioral Research Branch (J.L.), National Human Genome Research Institute, the Women's Malignancies Branch (C.M.A., I.S.G., P.S.R.) and the Cancer Data Science Laboratory (P.S.R.), Center for Cancer Research, National Cancer Institute, Radiology and Imaging Sciences, Clinical Center (A.A.M., B.R.), and the Office of the Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development (D.W.B.), National Institutes of Health, Bethesda, and Leidos Biomedical Research, Frederick (M.P.) - both in Maryland.
Christina M AnnunziataFrom the Prenatal Genomics and Therapy Section, Center for Precision Health Research (A.E.T., D.W.B.), and the Section on Social Network Methods, Social and Behavioral Research Branch (J.L.), National Human Genome Research Institute, the Women's Malignancies Branch (C.M.A., I.S.G., P.S.R.) and the Cancer Data Science Laboratory (P.S.R.), Center for Cancer Research, National Cancer Institute, Radiology and Imaging Sciences, Clinical Center (A.A.M., B.R.), and the Office of the Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development (D.W.B.), National Institutes of Health, Bethesda, and Leidos Biomedical Research, Frederick (M.P.) - both in Maryland.
Ashkan A MalayeriFrom the Prenatal Genomics and Therapy Section, Center for Precision Health Research (A.E.T., D.W.B.), and the Section on Social Network Methods, Social and Behavioral Research Branch (J.L.), National Human Genome Research Institute, the Women's Malignancies Branch (C.M.A., I.S.G., P.S.R.) and the Cancer Data Science Laboratory (P.S.R.), Center for Cancer Research, National Cancer Institute, Radiology and Imaging Sciences, Clinical Center (A.A.M., B.R.), and the Office of the Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development (D.W.B.), National Institutes of Health, Bethesda, and Leidos Biomedical Research, Frederick (M.P.) - both in Maryland.
Bernadette ReddFrom the Prenatal Genomics and Therapy Section, Center for Precision Health Research (A.E.T., D.W.B.), and the Section on Social Network Methods, Social and Behavioral Research Branch (J.L.), National Human Genome Research Institute, the Women's Malignancies Branch (C.M.A., I.S.G., P.S.R.) and the Cancer Data Science Laboratory (P.S.R.), Center for Cancer Research, National Cancer Institute, Radiology and Imaging Sciences, Clinical Center (A.A.M., B.R.), and the Office of the Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development (D.W.B.), National Institutes of Health, Bethesda, and Leidos Biomedical Research, Frederick (M.P.) - both in Maryland.
Miroslava PavelovaFrom the Prenatal Genomics and Therapy Section, Center for Precision Health Research (A.E.T., D.W.B.), and the Section on Social Network Methods, Social and Behavioral Research Branch (J.L.), National Human Genome Research Institute, the Women's Malignancies Branch (C.M.A., I.S.G., P.S.R.) and the Cancer Data Science Laboratory (P.S.R.), Center for Cancer Research, National Cancer Institute, Radiology and Imaging Sciences, Clinical Center (A.A.M., B.R.), and the Office of the Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development (D.W.B.), National Institutes of Health, Bethesda, and Leidos Biomedical Research, Frederick (M.P.) - both in Maryland.
Ian S GoldlustFrom the Prenatal Genomics and Therapy Section, Center for Precision Health Research (A.E.T., D.W.B.), and the Section on Social Network Methods, Social and Behavioral Research Branch (J.L.), National Human Genome Research Institute, the Women's Malignancies Branch (C.M.A., I.S.G., P.S.R.) and the Cancer Data Science Laboratory (P.S.R.), Center for Cancer Research, National Cancer Institute, Radiology and Imaging Sciences, Clinical Center (A.A.M., B.R.), and the Office of the Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development (D.W.B.), National Institutes of Health, Bethesda, and Leidos Biomedical Research, Frederick (M.P.) - both in Maryland.
Padma Sheila RajagopalFrom the Prenatal Genomics and Therapy Section, Center for Precision Health Research (A.E.T., D.W.B.), and the Section on Social Network Methods, Social and Behavioral Research Branch (J.L.), National Human Genome Research Institute, the Women's Malignancies Branch (C.M.A., I.S.G., P.S.R.) and the Cancer Data Science Laboratory (P.S.R.), Center for Cancer Research, National Cancer Institute, Radiology and Imaging Sciences, Clinical Center (A.A.M., B.R.), and the Office of the Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development (D.W.B.), National Institutes of Health, Bethesda, and Leidos Biomedical Research, Frederick (M.P.) - both in Maryland.
Jielu LinFrom the Prenatal Genomics and Therapy Section, Center for Precision Health Research (A.E.T., D.W.B.), and the Section on Social Network Methods, Social and Behavioral Research Branch (J.L.), National Human Genome Research Institute, the Women's Malignancies Branch (C.M.A., I.S.G., P.S.R.) and the Cancer Data Science Laboratory (P.S.R.), Center for Cancer Research, National Cancer Institute, Radiology and Imaging Sciences, Clinical Center (A.A.M., B.R.), and the Office of the Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development (D.W.B.), National Institutes of Health, Bethesda, and Leidos Biomedical Research, Frederick (M.P.) - both in Maryland.
Diana W BianchiFrom the Prenatal Genomics and Therapy Section, Center for Precision Health Research (A.E.T., D.W.B.), and the Section on Social Network Methods, Social and Behavioral Research Branch (J.L.), National Human Genome Research Institute, the Women's Malignancies Branch (C.M.A., I.S.G., P.S.R.) and the Cancer Data Science Laboratory (P.S.R.), Center for Cancer Research, National Cancer Institute, Radiology and Imaging Sciences, Clinical Center (A.A.M., B.R.), and the Office of the Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development (D.W.B.), National Institutes of Health, Bethesda, and Leidos Biomedical Research, Frederick (M.P.) - both in Maryland.ORCID 0000-0001-9270-5267

Funding

Clinical trials in womens cancersZIABC011584 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI ANNUNZIATA, CHRISTINA · 2014 to 2023
$3.1M
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 BC011584Intramural NIH HHS ZIA HG200400NIH HHS 1ZIA BC011584-10NIH HHS 1ZIA HG200400-07
6 · The paper itself

Abstract

backgroundCell-free DNA (cfDNA) sequence analysis to screen for fetal aneuploidy can incidentally detect maternal cancer. Additional data are needed to identify DNA-sequencing patterns and other biomarkers that can identify pregnant persons who are most likely to have cancer and to determine the best approach for follow-up.

methodsIn this ongoing study we performed cancer screening in pregnant or postpartum persons who did not perceive signs or symptoms of cancer but received unusual clinical cfDNA-sequencing results or results that were nonreportable (i.e., the fetal aneuploidy status could not be assessed) from one of 12 different commercial laboratories in North America. We used a uniform cancer-screening protocol including rapid whole-body magnetic resonance imaging (MRI), laboratory tests, and standardized cfDNA sequencing for research purposes with the use of a genomewide platform. The primary outcome was the presence of cancer in participants after the initial cancer-screening evaluation. Secondary analyses included test performance.

resultsCancer was present in 52 of the 107 participants in the initial cohort (48.6%). The sensitivity and specificity of whole-body MRI in detecting occult cancer were 98.0% and 88.5%, respectively. Physical examination and laboratory tests were of limited use in identifying participants with cancer. Research sequencing showed that 49 participants had a combination of copy-number gains and losses across multiple (≥3) chromosomes; cancer was present in 47 of the participants (95.9%) with this sequencing pattern. Sequencing patterns of cfDNA in which there were only chromosomal gains (multiple trisomies) or only chromosomal losses (one or more monosomies) were found in participants with nonmalignant conditions, such as fibroids.

conclusionsIn this study, 48.6% of participants who received unusual or nonreportable clinical cfDNA-sequencing results had an occult cancer. Further study of DNA-sequencing patterns that are suggestive of occult cancer during prenatal screening is warranted. (Funded by the NIH Intramural Research Programs; ClinicalTrials.gov number, NCT04049604.).

Indexed as

Cell-Free Nucleic AcidsEarly Detection of CancerIncidental FindingsNeoplasmsNoninvasive Prenatal TestingPregnancy Complications, NeoplasticSequence Analysis, DNAAdultAneuploidyBiomarkers, TumorDNA Copy Number VariationsFemaleHumansMagnetic Resonance ImagingMiddle AgedPostpartum PeriodBiomarkers, TumorCell-Free Nucleic Acids

Identifiers

PMID39774314
PMCPMC11711700

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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.