Emily Hrach, Jenna Carlson, Robin E Grubs, Elizabeth Sheehan, Ruth B Lathi, Aleksandar Rajkovic, Svetlana A Yatsenko
{"title":"Assessing patient perceptions and understandings of genetic testing after pregnancy loss.","authors":"Emily Hrach, Jenna Carlson, Robin E Grubs, Elizabeth Sheehan, Ruth B Lathi, Aleksandar Rajkovic, Svetlana A Yatsenko","doi":"10.1007/s10815-025-03705-0","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>The 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.</p><p><strong>Methods: </strong>An 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).</p><p><strong>Results: </strong>Out 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.</p><p><strong>Conclusion: </strong>Genetic 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.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7000,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Assisted Reproduction and Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10815-025-03705-0","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Purpose: The 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.
Methods: An 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).
Results: Out 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.
Conclusion: Genetic 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.
期刊介绍：
The Journal of Assisted Reproduction and Genetics publishes cellular, molecular, genetic, and epigenetic discoveries advancing our understanding of the biology and underlying mechanisms from gametogenesis to offspring health. Special emphasis is placed on the practice and evolution of assisted reproduction technologies (ARTs) with reference to the diagnosis and management of diseases affecting fertility. Our goal is to educate our readership in the translation of basic and clinical discoveries made from human or relevant animal models to the safe and efficacious practice of human ARTs. The scientific rigor and ethical standards embraced by the JARG editorial team ensures a broad international base of expertise guiding the marriage of contemporary clinical research paradigms with basic science discovery. JARG publishes original papers, minireviews, case reports, and opinion pieces often combined into special topic issues that will educate clinicians and scientists with interests in the mechanisms of human development that bear on the treatment of infertility and emerging innovations in human ARTs. The guiding principles of male and female reproductive health impacting pre- and post-conceptional viability and developmental potential are emphasized within the purview of human reproductive health in current and future generations of our species.
The journal is published in cooperation with the American Society for Reproductive Medicine, an organization of more than 8,000 physicians, researchers, nurses, technicians and other professionals dedicated to advancing knowledge and expertise in reproductive biology.
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