Evidence map›Paper›PMID 27796679›Full record

ArticleJournal of genetic counseling2017

Experiences among Women with Positive Prenatal Expanded Carrier Screening Results.

Erin Rothwell, Erin Johnson, Amber Mathiesen, Kylie Golden, Audrey Metcalf, Nancy C Rose, Jeffrey R Botkin

Abstract read
In one paragraph

Article in Journal of genetic counseling, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
29citing 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

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

  1. Pooled it
  2. Trial
  3. Review
  4. Review
  5. Application of clinical exome sequencing in sperm donor screening in China.Journal of assisted reproduction and genetics · 2025
    Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Establishing the Medical Actionability of Genomic Variants.Annual review of genomics and human genetics · 2022
    Review
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Broad-scale informed consent: A survey of the CTSA landscape.Journal of clinical and translational science · 2019
    Article
  18. Commentary: Expanded carrier screening: how much is too much?Genetics in medicine : official journal of the American College of Medical Genetics · 2019
    Article
  19. The evolving landscape of expanded carrier screening: challenges and opportunities.Genetics in medicine : official journal of the American College of Medical Genetics · 2019
    Review
  20. Giving adolescents a voice: the types of genetic information adolescents choose to learn and why.Genetics in medicine : official journal of the American College of Medical Genetics · 2019
    Article
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.

Erin RothwellDivision of Health Systems and Community-Based Care, College of Nursing, School of Medicine, University of Utah, 10 South 2000 East, Salt Lake City, UT, 84112, USA. erin.rothwell@nurs.utah.edu.
Erin JohnsonDivision of Health Systems and Community-Based Care, College of Nursing, School of Medicine, University of Utah, 10 South 2000 East, Salt Lake City, UT, 84112, USA.
Amber MathiesenDivision of Maternal Fetal Medicine, Department of ObGyn, University of Utah, Salt Lake City, UT, USA.
Kylie GoldenDivision of Health Systems and Community-Based Care, College of Nursing, School of Medicine, University of Utah, 10 South 2000 East, Salt Lake City, UT, 84112, USA.
Audrey MetcalfDivision of Health Systems and Community-Based Care, College of Nursing, School of Medicine, University of Utah, 10 South 2000 East, Salt Lake City, UT, 84112, USA.
Nancy C RoseDepartment of Pediatrics, University of Utah, Salt Lake City, UT, USA.
Jeffrey R BotkinDivision of Medical Ethics and Humanities, University of Utah, Salt Lake City, UT, USA.

Funding

Utah Center of Excellence in ELSI Research: UCEERRM1HG009037 · NHGRI · UNIVERSITY OF UTAH · PI ROTHWELL, ERIN, TABERY, JAMES · 2016 to 2024
$8.0M
UCEER: Utah Center for Excellence in ELSI Research P20P20HG007249 · NHGRI · UNIVERSITY OF UTAH · PI BOTKIN, JEFFREY R. · 2013 to 2015
$777k
NHGRI NIH HHS P20 HG007249NHGRI NIH HHS RM1 HG009037
6 · The paper itself

Abstract

The offering and acceptance of expanded carrier screening is increasing among pregnant women including women without an increased risk based on race, ethnicity or family history. The chances of a positive screening test have been reported to be as high as 24 % when multiple conditions are screened. Yet, little is known about the way these tests are offered and how patients are affected by a positive test result. To explore this area of genetic testing, interviews (n = 17) were conducted among women who received positive expanded carrier results in the context of obstetric care. A content analysis was conducted on the transcript data from the interviews. Outcomes of this research suggest that educational interventions are needed to improve maternal understanding of positive carrier screening results. Most of the participants in this study confused the results with other prenatal screening test options. In addition, the way the results were discussed varied greatly, and influenced participants' thoughts about reproductive decisions that led to a range of emotional uncertainty. Our data suggests that genetic counseling improved participants' understanding of positive results. More research is needed to further understand if our results are consistent within a larger, more diverse sample, and to explore how to best provide education about expanded carrier screening.

Indexed as

Genetic Carrier ScreeningGenetic CounselingHealth Knowledge, Attitudes, PracticePatient Education as TopicPrenatal DiagnosisAdultFemaleHumansPregnancyExpanded carrier screeningGenetic counselingGenetic testingPositive resultsPregnancy

Identifiers

PMID27796679
PMCPMC5432405

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.