Evidence map›Paper›PMID 22955112›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2013

Women's experiences receiving abnormal prenatal chromosomal microarray testing results.

Barbara A Bernhardt, Danielle Soucier, Karen Hanson, Melissa S Savage, Laird Jackson, Ronald J Wapner

Registry-linked trialAbstract read
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02160938 (Prenatal Cytogenetic Diagnosis by Array-Based Copy Number Analysis), which is not on this map. Cited by 94 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
94citing papers in PubMed, 6 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.

NCT02160938 completednot on this map

Prenatal Cytogenetic Diagnosis by Array-Based Copy Number Analysis: Follow-Up

Typeobservational_patient_registrySponsorColumbia UniversityRan2013 to 2018Enrolled184ConditionsGenetic DiseasesArms3-year follow-up
3 · Its place in the literature

Who cites it

94 citing papers in PubMed, 6 syntheses or guidelines pooled it.

  1. Pooled it
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  5. Characteristics and evaluation outcomes of genomics curricula for health professional students: a systematic literature review.Genetics in medicine : official journal of the American College of Medical Genetics · 2019
    Pooled it
  6. Pooled it
  7. Identifying Strategies to Improve Shared Decision Making for Pregnant Patients' Decisions about Prenatal Genetic Screens and Diagnostic Tests.Medical decision making : an international journal of the Society for Medical Decision Making · 2024
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  18. Fetal Corpus Callosum Anomalies: A Review of Underlying Genetic Disorders and Prenatal Testing Options.Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine · 2025
    Review
  19. Article
  20. Review

34 more citing papers are in PubMed but not listed here.

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

6 authors.

Barbara A BernhardtDepartment of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Barbara.bernhardt@uphs.upenn.edu
Danielle Soucier
Karen Hanson
Melissa S Savage
Laird Jackson
Ronald J Wapner

Funding

Prenatal Genetic Diagnosis by Genomic Sequencing: A Prospective EvaluationR01HD055651 · NICHD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Wendy K Chung, Vaidehi Jobanputra · 2007 to 2026
$16.5M
Applying Genomic Sequencing in PediatricsU01HG006546 · NHGRI · CHILDREN'S HOSP OF PHILADELPHIA · PI KRANTZ, IAN D. · 2012 to 2016
$10.6M
PRENATAL CYTOGENETIC DIAGNOSIS BY ARRAY-BASED COPY NUMBER ANALYSES: Follow-upU01HD055651 · NICHD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI WAPNER, RONALD · 2012 to 2016
$6.6M
Penn Center for ELSI Research in Emerging Genetic Technologies in Health CareP50HG004487 · NHGRI · UNIVERSITY OF PENNSYLVANIA · PI PYERITZ, REED E · 2007 to 2012
$6.2M
NHGRI NIH HHS P50 HG004487NHGRI NIH HHS P50HG004487NHGRI NIH HHS U01 HG006546NICHD NIH HHS R01 HD055651NICHD NIH HHS R01HD055651-01NICHD NIH HHS R01HD055651-03S1NICHD NIH HHS U01 HD055651
6 · The paper itself

Abstract

purposeGenomic microarrays can detect copy-number variants not detectable by conventional cytogenetics. This technology is diffusing rapidly into prenatal settings even though the clinical implications of many copy-number variants are currently unknown. We conducted a qualitative pilot study to explore the experiences of women receiving abnormal results from prenatal microarray testing performed in a research setting.

methodsParticipants were a subset of women participating in a multicenter prospective study "Prenatal Cytogenetic Diagnosis by Array-based Copy Number Analysis." Telephone interviews were conducted with 23 women receiving abnormal prenatal microarray results.

resultsWe found that five key elements dominated the experiences of women who had received abnormal prenatal microarray results: an offer too good to pass up, blindsided by the results, uncertainty and unquantifiable risks, need for support, and toxic knowledge.

conclusionAs prenatal microarray testing is increasingly used, uncertain findings will be common, resulting in greater need for careful pre- and posttest counseling, and more education of and resources for providers so they can adequately support the women who are undergoing testing.

Indexed as

Chromosome AberrationsAdultChromosome DisordersFemaleGenetic CounselingGenetic TestingHumansPilot ProjectsPregnancyPrenatal DiagnosisTruth Disclosure

Identifiers

PMID22955112
PMCPMC3877835

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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.