Evidence map›Paper›PMID 22467170›Full record

Trial reportPrenatal diagnosis2012

Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial.

Ronald J Wapner, Deborah A Driscoll, Joe Leigh Simpson

Open access · greenAbstract readClinical Trial
In one paragraph

Trial report in Prenatal diagnosis, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 1 pooled it
7.9field-weighted citation impact, top 2% of its field
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

20 citing papers in PubMed, 1 synthesis or guideline pooled it, 63 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Article
  4. Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026
    Article
  5. Review
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  12. Article
  13. Review
  14. Review
  15. Article
  16. Article
  17. Review
  18. Women's experiences receiving abnormal prenatal chromosomal microarray testing results.Genetics in medicine : official journal of the American College of Medical Genetics · 2013
    Article
  19. Article
  20. 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

3 authors at 3 institutions in 1 country.

Ronald J WapnerDepartment of Obstetrics and Gynecology, Columbia University College of Physicians and Surgeons, New York, NY, USA. rw2191@columbia.edu
Deborah A Driscoll
Joe Leigh Simpson
Columbia University · USHospital of the University of Pennsylvania · USMarch of Dimes · US

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
NICHD NIH HHS R01 HD055651
6 · The paper itself

Abstract

Cytogenetic microarray analysis (CMA) in prenatal testing detects chromosome abnormalities and new genetic syndromes that would be missed by conventional cytogenetics and has the potential to significantly enhance prenatal genetic evaluation. A large Eunice Kennedy Shriver National Institute Of Child Health and Human Development (NICHD)-sponsored multicentered trial to assess the role of CMA as a primary prenatal diagnostic tool has been completed, and results will soon be available. Integration of this technology into clinical care will require thoughtful changes in patient counseling. Here, we examine four cases, all ascertained in the NICHD prenatal microarray study, to illustrate the challenges and subtleties of genetic counseling required with prenatal CMA testing. Although the specifics of each case are distinct, the underlying genetic principles of uncertainty, variable expressivity, and lack of precise genotype-phenotype correlation are well known and already part of prenatal counseling. Counselor and practitioner education will need to include both the science of interpreting array findings as well as development of improved approaches to uncertainty. A team approach to interpretation will need to be developed, as will standardized guidelines by professional organizations and laboratories. Of equal import is additional research into patient attitudes and desires, and a better understanding of the full phenotypic spectrum of copy number variants discovered in utero.

Indexed as

Genetic CounselingPrenatal DiagnosisAdultChromosome AberrationsChromosome DisordersCytogeneticsFamous PersonsFemaleHumansMolecular Diagnostic TechniquesNational Institute of Child Health and Human Development (U.S.)Oligonucleotide Array Sequence AnalysisPatient PreferencePediatricsPregnancyUncertainty

Identifiers

PMID22467170
PMCPMC4251739
OpenAlexW1525915668

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.