Evidence map›Paper›PMID 30741804›Full record

ArticleObstetrics and gynecology2019

Noninvasive Prenatal Whole Genome Sequencing: Pregnant Women's Views and Preferences.

Haley K Sullivan, Michelle Bayefsky, Paul G Wakim, Kathi Huddleston, Barbara B Biesecker, Sara Chandros Hull, Benjamin E Berkman

Abstract read
In one paragraph

Article in Obstetrics and gynecology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed, 1 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

19 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
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  4. Should the scope of NIPT be limited by a 'threshold of seriousness'?European journal of human genetics : EJHG · 2025
    Article
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  16. Impact of Emerging Technologies in Prenatal Genetic Counseling.Cold Spring Harbor perspectives in medicine · 2020
    Review
  17. Article
  18. Article
  19. Genetic diagnosis in the fetus.Journal of perinatology : official journal of the California Perinatal Association · 2020
    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

7 authors.

Haley K SullivanNational Institutes of Health Clinical Center and National Human Genome Research Institute, Bethesda, Maryland; Harvard Medical School, Boston, Massachusetts; INOVA Translational Medicine Institute, Falls Church, Virginia; and RTI International, Research Triangle Park, North Carolina.
Michelle Bayefsky
Paul G Wakim
Kathi Huddleston
Barbara B Biesecker
Sara Chandros Hull
Benjamin E Berkman

Funding

Intramural NIH HHS Z99 HG999999
6 · The paper itself

Abstract

objectiveTo assess pregnant women's views and preferences on noninvasive prenatal whole genome sequencing.

methodsA survey was offered to 805 pregnant women receiving prenatal care in practices affiliated with a large, tertiary care maternity hospital. Respondents were asked to envision undergoing prenatal whole genome sequencing and discuss their preferences and reasons for receiving different categories of genomic results, organized by actionability, severity, prevalence, and age of onset. The survey also queried respondents on their preferred role for clinicians in prenatal whole genome sequencing decision-making, and on their demographics and genetic literacy.

resultsFrom June to August 2017, a total of 553 respondents returned the survey (response rate=68.7%). Respondents were most likely to want information regarding serious treatable childhood-onset conditions (89.7%) and least likely to want to receive information about nonmedical traits from prenatal whole genome sequencing (40%). The most frequently cited reason for wanting medical prenatal whole genome sequencing results was "to prepare financially, medically, or psychologically for a child with special needs." In total, 10.5% of respondents wanted clear recommendations from clinicians about the categories of information that are most appropriate to test for, 44.7% wanted clear recommendations plus all options presented, 26.2% wanted all options presented and joint decision-making, and 13.2% wanted all options presented and independent decision-making.

conclusionRespondents generally preferred to receive all categories of genetic results pertaining to medical conditions and wanted the information to prepare. More than half of respondents wanted (at minimum) clear recommendations from clinicians when deciding which prenatal whole genome sequencing results to receive.

Indexed as

Health Knowledge, Attitudes, PracticeNoninvasive Prenatal TestingPatient PreferenceAdultCongenital AbnormalitiesDecision Making, SharedFemaleFetal DiseasesGenetic Diseases, InbornHumansPatient Education as TopicPregnancyPrenatal CareSurveys and QuestionnairesWhole Genome SequencingYoung Adult

Identifiers

PMID30741804
PMCPMC6389368

What OpenQuestion holds

Textmetadata
LicenceTDM
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.