Evidence map›Paper›PMID 40372085›Full record

ReviewJournal of genetic counseling2025

Pediatric predictive testing to inform preimplantation genetic testing: A case report and review of the literature.

Kendra L Schaa, Renata Thoeny, Rebecca J Benson, Graeme J Pitcher, Shelby Romoser, Alpa Sidhu

Abstract readCase ReportsReview
In one paragraph

Review in Journal of genetic counseling, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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.

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

1 citing paper in PubMed.

  1. 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

6 authors.

Kendra L SchaaDepartment of Obstetrics and Gynecology, University of Iowa Health Care, Iowa City, Iowa, USA.ORCID 0000-0002-4460-5357
Renata ThoenyDepartment of Obstetrics and Gynecology, University of Iowa Health Care, Iowa City, Iowa, USA.ORCID 0000-0002-1649-0601
Rebecca J BensonDivision of General Pediatrics and Adolescent Medicine, The Stead Family Department of Pediatrics, Affiliate Faculty, Program of Bioethics and Humanities, University of Iowa Health Care, Iowa City, Iowa, USA.ORCID 0000-0003-3224-319X
Graeme J PitcherDivision of Pediatric Surgery, Department of Surgery, Affiliate Faculty, Program of Bioethics and Humanities, University of Iowa Health Care, Iowa City, Iowa, USA.ORCID 0000-0003-1908-6900
Shelby RomoserDivision of Medical Genetics and Genomics, The Stead Family Department of Pediatrics, University of Iowa Health Care, Iowa City, Iowa, USA.
Alpa SidhuDivision of Medical Genetics and Genomics, The Stead Family Department of Pediatrics, University of Iowa Health Care, Iowa City, Iowa, USA.ORCID 0000-0002-8980-5029

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Clinical genetic testing is rapidly expanding in reproductive, pediatric, and adult specialties. We report the case of a couple's request for pediatric genetic testing for a familial Lynch syndrome pathogenic variant, with the goal of utilizing this information to perform preimplantation genetic testing (PGT) on cryopreserved embryos. We outline existing professional guidelines related to genetic testing of embryos and minors for adult-onset conditions. By highlighting conflicting perspectives from various interested parties, the significant ethical ambiguity in pediatric predictive genetic testing is underscored. This case exemplifies the value of a multidisciplinary team approach and shared decision-making model to guide parental requests for predictive genetic testing of a minor for the purpose of PGT.

Indexed as

Genetic TestingPreimplantation DiagnosisHumansPregnancyethicsgenetic counselinghereditary cancer predispositionparentspredictive genetic testingreproductive planningshared decision making

Identifiers

PMID40372085
PMCPMC12080296

What OpenQuestion holds

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LicenceCC BY
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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.