Evidence map›Paper›PMID 41083663›Full record

ArticleJournal of assisted reproduction and genetics2025

Assessing patient perceptions and understandings of genetic testing after pregnancy loss.

Emily Hrach, Jenna Carlson, Robin E Grubs, Elizabeth Sheehan, Ruth B Lathi, Aleksandar Rajkovic, Svetlana A Yatsenko

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Article in Journal of assisted reproduction and genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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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

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3 · Its place in the literature

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No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Emily HrachDepartment of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
Jenna CarlsonDepartment of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
Robin E GrubsDepartment of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
Elizabeth SheehanCenter for Medical Genetics, UPMC Magee-Women's Hospital, Pittsburgh, PA, USA.
Ruth B LathiDepartment of Obstetrics, Gynecology and Reproductive Sciences, School of Medicine, Stanford University, Stanford, CA, USA.
Aleksandar RajkovicDepartment of Pathology, University of California San Francisco, San Francisco, CA, USA.
Svetlana A YatsenkoDepartment of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA. say999@stanford.edu.ORCID http://orcid.org/0000-0003-4809-8601

Funding

Trio Analysis of Recurrent Pregnancy Loss Integrated Bioinformatics Genomics Study (TRIOS)R01HD105256 · NICHD · STANFORD UNIVERSITY · PI LATHI, RUTH B, RAJKOVIC, ALEKSANDAR · 2021 to 2025
$7.0M
NICHD NIH HHS R01 HD105256
6 · The paper itself

Abstract

purposeThe ACOG and ASRM practice guidelines recommend cytogenetic testing after two pregnancy losses. This study aimed to evaluate patients' understandings of the benefits and limitations of genetic testing, feelings, motivations, and hesitations regarding genetic testing, effect of genetic findings on family planning, and to discern the areas of potential clinical improvement.

methodsAn anonymous online survey collected responses regarding frequency and outcomes of testing, family history, patients' perceptions regarding benefits and utility of genetic testing, and likelihood of utilizing various reproductive options. Results were compared between participants with a single miscarriage (SM) and recurrent pregnancy losses (RPL).

resultsOut of 218 qualified respondents, 198 (90.8%) completed the entire survey. Overall, 92.1% of respondents were interested in genetic testing to find an explanation for miscarriage. Genetic testing on the miscarriage tissue was offered to 55.4% of respondents (63.7% with RPL and 46.0% with SM). Parental genetic testing was offered to 67.9% of patients and 54.5% of their partners with RPL and to 27.6% of individuals and 18.4% of their partners with SM. Genetic testing provided an explanation for the miscarriage for an approximately equal proportion of SM and RPL respondents. Knowing a genetic cause, respondents would be more likely to utilize preimplantation genetic screening or prenatal testing than egg/sperm donation or adoption.

conclusionGenetic testing is highly desired by patients to aid in decision making about future pregnancies, but many are not offered testing despite meeting practice guidelines, indicating the need for more widespread implementation of practice guidelines.

Indexed as

Abortion, HabitualAbortion, SpontaneousGenetic TestingAdultFemaleGenetic CounselingHealth Knowledge, Attitudes, PracticeHumansMalePregnancyPreimplantation DiagnosisSurveys and QuestionnairesGenetic testingMiscarriagePregnancy lossPsychosocialRecurrent pregnancy lossSurvey

Identifiers

PMID41083663
PMCPMC12705503

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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.