Misinterpreting the Results: Patient Misconceptions about Genetic Cancer Risk after Obstetrical Carrier Screening Shortened Title: Perceptions of Genetic Cancer Risk in Prenatal Carrier Screening

Misinterpreting the Results: Patient Misconceptions about Genetic Cancer Risk after Obstetrical Carrier Screening Shortened Title: Perceptions of Genetic Cancer Risk in Prenatal Carrier Screening | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Short Report Misinterpreting the Results: Patient Misconceptions about Genetic Cancer Risk after Obstetrical Carrier Screening Shortened Title: Perceptions of Genetic Cancer Risk in Prenatal Carrier Screening Alex Raghunandan, Sonali Iyer, Shayan Dioun, Jessica Scholl, Robin Kalish, and 4 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-8117630/v1 This work is licensed under a CC BY 4.0 License Status: Published Journal Publication published 18 Feb, 2026 Read the published version in Familial Cancer → Version 1 posted 9 You are reading this latest preprint version Abstract Obstetric carrier screening (OCS) is recommended for all individuals during pregnancy by leading professional societies. However, patient understanding of the scope and limitations of OCS remains poorly characterized, especially with regards to inclusion of cancer genes on OCS panels. This quality improvement initiative evaluated pregnant patients’ knowledge of their OCS results. We contacted 100 pregnant patients who had recently completed OCS and participated in a structured telephone interview following physician disclosure of results. When asked about the content of OCS, 52% of patients were unsure or incorrectly believed that cancer-related genes were included on the panel. After clarification of the specific genes and syndromes tested, 73% of patients reported that they would have elected to undergo hereditary cancer screening had it been offered concurrently with OCS. These findings reveal substantial gaps in patient comprehension of OCS and suggest that many pregnant patients incorrectly assume that cancer susceptibility genes are included in their testing. The high level of interest in hereditary cancer screening following clarification underscores pregnancy as a unique window of opportunity to expand access to cancer genetics. Integrating cancer risk assessment into obstetric care may improve uptake of preventive strategies and broaden the impact of genomics on women’s health. Genetic testing Hereditary cancer screening Obstetric carrier screening Prenatal testing Figures Figure 1 Introduction Obstetric carrier screening (OCS) traditionally involves genetic testing to identify single autosomal recessive variant alleles whereby, if two copies are inherited by offspring, there can be phenotypic disease. 1 Leading professional societies, including the American College of Obstetricians and Gynecologists and the American College of Medical Genetics and Genomics, recommend that OCS be offered to all individuals during or prior to pregnancy. 1 , 2 Currently, approximately 40% of pregnant women in the United States complete OCS, and uptake continues to grow. This trend reflects rising public interest in genetic information, as demonstrated by the increasing popularity of direct-to-consumer genetic and ancestry testing. 3 – 5 Despite this uptake, little is known about patient understanding of the scope and limitations of OCS. In particular, as OCS panels expand and other forms of testing (such as hereditary cancer screening (HCS)) become increasingly available, patients may confuse one form of testing for another. This misunderstanding could lead patients to assume they have been screened for cancer risk when they have not. This quality improvement initiative aimed to evaluate patient understanding of OCS through structured post-test telephone interviews. Methods This quality improvement initiative was guided by the Model for Improvement (MFI) framework. 6 Monthly stakeholder meetings included obstetricians, oncologists, genetics clinicians, genetic counselors, and patient representatives. Retrospective review of patient demographics was approved by the Weill Cornell Medicine Institutional Review Board. Methods and outcomes were reported according to quality improvement guidelines. 6 Population Consecutive pregnant patients who completed OCS at three obstetrical practices affiliated with a single academic institution between July 2024 and November 2024 were eligible. Data Collection Patients were contacted by telephone 6–8 weeks after OCS sample submission, following results disclosure by their clinical team. A structured interview script, designed by the stakeholder team (Table 1 , Fig. 1 ), assessed patient understanding of OCS, including whether they believed cancer genes were included. Variables Patient demographics were abstracted from the medical record. The primary outcome was patient understanding of the scope of their OCS testing. Results During the study period, 201 patients completed OCS across the three practice sites. Telephone contact was attempted with all patients, and 100 (50%) were successfully reached and agreed to a telephone interview. Demographics Median patient age was 34 years (range 18–43); median gestational age was 20 weeks (range 10–37). Self-reported race was White (52%), Asian (18%), Black (13%), Other (11%), and 6% declined. Fourteen percent of patients identified as Hispanic. Insurance coverage was public for 21% and private for 79%. Understanding of OCS: 53% of patient reported knowing which genes and conditions were included on their OCS panel. 19% of patients incorrectly believed OCS included hereditary cancer syndromes. 33% of patients were uncertain whether cancer genes were included. Interest in Combined Testing: Following questions regarding understanding of OCS, patients were informed by the research team that standard OCS does not include cancer genes. Patients were then asked about inclusion of cancer-related genes on OCS panels. 61% of patients stated that hereditary cancer screening should be offered at the time of OCS. Furthermore, 73% of patients reported that if HCS had been offered at the same time as OCS, they would have elected to complete both tests (Table 1 ). No significant differences in responses were observed based on patient age, race/ethnicity, or insurance status or practice setting. Discussion This study highlights a significant gap in patient understanding of OCS, with more than half of surveyed patients either uncertain or incorrectly believing that cancer-related genes were included. This misinterpretation is clinically meaningful: patients may assume they have been tested for hereditary cancer risk when they have not, potentially delaying appropriate preventive care. At the same time, our findings reveal high patient interest in hereditary cancer testing during pregnancy. Nearly three-quarters of participants indicated they would accept combined OCS and HCS if offered. These results align with prior studies suggesting strong patient demand for cancer risk assessment during pregnancy. 7 , 8 Existing modeling analyses have further demonstrated that adding BRCA testing at the time of OCS is cost-effective, with the potential to prevent cancer cases and deaths. 9 Clinical Implications Pregnancy represents a unique window of opportunity for genetic testing. Nearly all women engage with the healthcare system during this period and many undergo some form of genetic screening. Integrating hereditary cancer testing into OCS could: 1) Increase identification of high-risk individuals at a life stage where preventive actions are most impactful. 2) Facilitate early initiation of enhanced surveillance, chemoprevention, or risk-reducing surgery. 3) Offer critical information during family planning and reproductive decision-making Comprehensive pre-test counseling is essential to ensure patients understand the scope of OCS, particularly as panels expand. Addressing misconceptions proactively can prevent false reassurance and build patient trust in genetic services. Strengths and Limitations Strengths of this study include its diverse patient sample across multiple practices within an academic institution and its direct engagement with patients to assess understanding. Limitations include the single-institution design, potential recall bias from surveying patients several weeks after results disclosure, voluntary uptake of OCS introducing selection bias, and a 50% response rate. While we did not identify any patient characteristics that impacted response to survey questions, the study had a small sample size and was not powered to address this question. Future Directions Our findings highlight the need for further research on implementing combined OCS/HCS in preconception and prenatal care across diverse healthcare settings. Future studies should evaluate how to optimize counseling and address potential stress or anxiety associated with cancer genetic testing in pregnancy, while also ensuring equitable access to these services. Conclusions This quality improvement initiative demonstrates that a substantial proportion of pregnant patients misunderstand the scope of OCS, with many incorrectly believing hereditary cancer genes are included. At the same time, there is strong patient interest in combined OCS and HCS, with 73% stating they would have accepted such testing if offered. These findings underscore both a gap in patient education and an opportunity to integrate hereditary cancer testing into prenatal care. Leveraging the unique window of pregnancy could expand access to lifesaving prevention and shift the paradigm of cancer genetics nationwide. Declarations Conflict of interest disclosure: Melissa K. Frey was supported by the following grants: Competing Interests Melissa K. Frey was supported by the following grants:-American Board of Obstetrics and Gynecology / American Association of Obstetricians and Gynecologists Foundation (ABOG/AAOGF) Scholar AwardMelissa K. Frey reports consultation work for WndrHLTH.Jessica Scholl serves as the Weill Cornell Medicine site principal investigator for Natera's EXpanding Prenatal cell free DNA screening Across moNogenic Disorders (EXPAND) (Protocol ID: 23-075-WH) Author Contribution AR: Investigation, Data Curation, Formal Analysis, Writing – original draft, SI: Writing – Reviewing and Editing, SD: Project administration, Writing- Reviewing and Editing, RK: Project administration, Writing- Reviewing and Editing, JS: Project administration, Writing- Reviewing and Editing, MP: Conceptualization Resources, Project administration, ALO: Conceptualization Resources, Project administration, RS: Supervision, Writing – reviewed & editing, MF – Conceptualization, Methodology, Supervision, Project Administration, Writing – Reviewing & Editing. All authors reviewed the manuscript. Data Availability All data supporting the findings of this study are available within the paper and its Supplementary Information. References Committee Opinion No (2017) 691: Carrier Screening for Genetic Conditions. Obstet Gynecol 129(3):e41–e55. 10.1097 /AOG.0000000000001952. PubMed PMID: 28225426 Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T, Chen E, Sparks TN, Reddi HV, Rajkovic A, Dungan JS, Committee APPG (2021) Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med 23(10):1793–1806 Epub 20210720. 10.1038/s41436-021-01203-z Ramdaney A, Lichten L, Propst L, Mann C, Lazarin GA, Jones M, Taylor A, Malinowski J (2022) Expanded carrier screening in the United States: A systematic evidence review exploring client and provider experiences. J Genet Couns 31(4):937–948 Epub 20220225. 10.1002/jgc4.1566 Makhnoon S, Lee M, Prasad T, Badalamenti A, Gurley T, Waters EA, Skinner CS (2024) Awareness, use, motivations and methods of accessing genetic testing in 2022 in the United States. Front Genet 15:1462831 Epub 20241108. 10.3389/fgene.2024.1462831 Van Steijvoort E, Chokoshvili D, Cannon W, Peeters J, Peeraer H, Matthijs K, Borry G (2020) Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature. Hum Reprod Update 26(3):335–355. 10.1093/humupd/dmaa001 PubMed PMID: 32099997 M R. Making quality improvement simple: The Model for Improvement. InnovAiT: Education and inspiration for general practice. (2016) ;9(12) Grant BJ, Chandler I, Son M, Dioun S, Mcdougale A, Sharaf RN, Frey MK (2025) Pregnancy: an underutilized window of opportunity for genetic cancer risk assessment. Am J Obstet Gynecol 232(1):e11–e3 Epub 20240919. 10.1016/j.ajog.2024.09.100 Kaphingst KA, Bather JR, Daly BM, Chavez-Yenter D, Vega A, Kohlmann WK (2022) Interest in Cancer Predisposition Testing and Carrier Screening Offered as Part of Routine Healthcare Among an Ethnically Diverse Sample of Young Women. Front Genet 13:866062 Epub 20220414. 10.3389/fgene.2022.866062 Dioun SM, Perez LR, Prabhu M, Brewer JT, Ahsan MD, Hou JY, Sharaf RN, Wright JD, Frey MK (2024) Cost-effectiveness of BRCA1 testing at time of obstetrical prenatal carrier screening for cancer prevention. Am J Obstet Gynecol. Epub 20240413. 10.1016/j.ajog.2024.04.014 . PubMed PMID: 38621481 Tables Table 1 Survey exploring patient understanding of obstetric carrier screening. Question N / % Did you receive counseling about obstetric carrier screening prior to the testing? Yes 94 No 4 Uncertain 2 Do you know what genes/conditions are evaluated with obstetric carrier screening? Yes 53 No 34 Uncertain 13 Do you think that the obstetric carrier screening you completed included cancer-related genes? Yes 19 No 48 Uncertain 33 Do you think cancer-related genetic testing should be offered with obstetric carrier screening? Yes 61 No 15 Uncertain 24 If screening for cancer genes had been offered to you with your obstetric carrier screening, would you have been interested in completing both types of genetic testing? Yes 73 No 16 Uncertain 11 Additional Declarations Competing interest reported. Melissa K. Frey was supported by the following grants: American Board of Obstetrics and Gynecology / American Association of Obstetricians and Gynecologists Foundation (ABOG/AAOGF) Scholar Award Melissa K. Frey reports consultation work for WndrHLTH. Jessica Scholl serves as the Weill Cornell Medicine site principal investigator for Natera's EXpanding Prenatal cell free DNA screening Across moNogenic Disorders (EXPAND) (Protocol ID: 23-075-WH) Cite Share Download PDF Status: Published Journal Publication published 18 Feb, 2026 Read the published version in Familial Cancer → Version 1 posted Editorial decision: Revision requested 07 Jan, 2026 Reviews received at journal 25 Dec, 2025 Reviewers agreed at journal 08 Dec, 2025 Reviewers agreed at journal 08 Dec, 2025 Reviewers agreed at journal 08 Dec, 2025 Reviewers invited by journal 07 Dec, 2025 Editor assigned by journal 19 Nov, 2025 Submission checks completed at journal 19 Nov, 2025 First submitted to journal 14 Nov, 2025 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. 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1","display":"","copyAsset":false,"role":"figure","size":146997,"visible":true,"origin":"","legend":"\u003cp\u003ePatient understanding of obstetric carrier screening\u003c/p\u003e","description":"","filename":"floatimage1.png","url":"https://assets-eu.researchsquare.com/files/rs-8117630/v1/e8147b769d590212d06137ac.png"},{"id":103251204,"identity":"49685487-c1d8-4f95-932c-d16538ec7f2c","added_by":"auto","created_at":"2026-02-23 16:06:10","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":821630,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-8117630/v1/a2b2a1fc-3653-4829-b87e-1c4debc25115.pdf"}],"financialInterests":"Competing interest reported. Melissa K. Frey was supported by the following grants:\n-\tAmerican Board of Obstetrics and Gynecology / American Association of Obstetricians and Gynecologists Foundation (ABOG/AAOGF) Scholar Award\nMelissa K. Frey reports consultation work for WndrHLTH.\nJessica Scholl serves as the Weill Cornell Medicine site principal investigator for Natera's EXpanding Prenatal cell free DNA screening Across moNogenic Disorders (EXPAND) (Protocol ID: 23-075-WH)","formattedTitle":"Misinterpreting the Results: Patient Misconceptions about Genetic Cancer Risk after Obstetrical Carrier Screening Shortened Title: Perceptions of Genetic Cancer Risk in Prenatal Carrier Screening","fulltext":[{"header":"Introduction","content":"\u003cp\u003eObstetric carrier screening (OCS) traditionally involves genetic testing to identify single autosomal recessive variant alleles whereby, if two copies are inherited by offspring, there can be phenotypic disease.\u003csup\u003e\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e\u003c/sup\u003e Leading professional societies, including the American College of Obstetricians and Gynecologists and the American College of Medical Genetics and Genomics, recommend that OCS be offered to all individuals during or prior to pregnancy.\u003csup\u003e\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e, \u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e\u003c/sup\u003e Currently, approximately 40% of pregnant women in the United States complete OCS, and uptake continues to grow. This trend reflects rising public interest in genetic information, as demonstrated by the increasing popularity of direct-to-consumer genetic and ancestry testing.\u003csup\u003e\u003cspan additionalcitationids=\"CR4\" citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e\u003c/sup\u003e Despite this uptake, little is known about patient understanding of the scope and limitations of OCS. In particular, as OCS panels expand and other forms of testing (such as hereditary cancer screening (HCS)) become increasingly available, patients may confuse one form of testing for another. This misunderstanding could lead patients to assume they have been screened for cancer risk when they have not. This quality improvement initiative aimed to evaluate patient understanding of OCS through structured post-test telephone interviews.\u003c/p\u003e"},{"header":"Methods","content":"\u003cp\u003eThis quality improvement initiative was guided by the Model for Improvement (MFI) framework.\u003csup\u003e\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e\u003c/sup\u003e Monthly stakeholder meetings included obstetricians, oncologists, genetics clinicians, genetic counselors, and patient representatives. Retrospective review of patient demographics was approved by the Weill Cornell Medicine Institutional Review Board. Methods and outcomes were reported according to quality improvement guidelines.\u003csup\u003e\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e\u003c/sup\u003e\u003c/p\u003e\u003cp\u003e\u003cstrong\u003ePopulation\u003c/strong\u003e\u003cp\u003eConsecutive pregnant patients who completed OCS at three obstetrical practices affiliated with a single academic institution between July 2024 and November 2024 were eligible.\u003c/p\u003e\u003c/p\u003e\u003cp\u003e\u003cstrong\u003eData Collection\u003c/strong\u003e\u003cp\u003ePatients were contacted by telephone 6\u0026ndash;8 weeks after OCS sample submission, following results disclosure by their clinical team. A structured interview script, designed by the stakeholder team (Table\u0026nbsp;\u003cspan refid=\"Tab1\" class=\"InternalRef\"\u003e1\u003c/span\u003e, Fig.\u0026nbsp;\u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e1\u003c/span\u003e), assessed patient understanding of OCS, including whether they believed cancer genes were included.\u003c/p\u003e\u003c/p\u003e\u003cp\u003e\u003cstrong\u003eVariables\u003c/strong\u003e\u003cp\u003ePatient demographics were abstracted from the medical record. The primary outcome was patient understanding of the scope of their OCS testing.\u003c/p\u003e\u003c/p\u003e"},{"header":"Results","content":"\u003cp\u003eDuring the study period, 201 patients completed OCS across the three practice sites. Telephone contact was attempted with all patients, and 100 (50%) were successfully reached and agreed to a telephone interview.\u003c/p\u003e\u003cp\u003e\u003cstrong\u003eDemographics\u003c/strong\u003e\u003cp\u003eMedian patient age was 34 years (range 18\u0026ndash;43); median gestational age was 20 weeks (range 10\u0026ndash;37). Self-reported race was White (52%), Asian (18%), Black (13%), Other (11%), and 6% declined. Fourteen percent of patients identified as Hispanic. Insurance coverage was public for 21% and private for 79%.\u003c/p\u003e\u003c/p\u003e\n\u003ch3\u003eUnderstanding of OCS:\u003c/h3\u003e\n\u003cp\u003e\u003cul\u003e\u003cli\u003e\u003cp\u003e53% of patient reported knowing which genes and conditions were included on their OCS panel.\u003c/p\u003e\u003c/li\u003e\u003cli\u003e\u003cp\u003e19% of patients incorrectly believed OCS included hereditary cancer syndromes.\u003c/p\u003e\u003c/li\u003e\u003cli\u003e\u003cp\u003e33% of patients were uncertain whether cancer genes were included.\u003c/p\u003e\u003c/li\u003e\u003c/ul\u003e\u003c/p\u003e\n\u003ch3\u003eInterest in Combined Testing:\u003c/h3\u003e\n\u003cp\u003eFollowing questions regarding understanding of OCS, patients were informed by the research team that standard OCS does not include cancer genes. Patients were then asked about inclusion of cancer-related genes on OCS panels. 61% of patients stated that hereditary cancer screening should be offered at the time of OCS. Furthermore, 73% of patients reported that if HCS had been offered at the same time as OCS, they would have elected to complete both tests (Table\u0026nbsp;\u003cspan refid=\"Tab1\" class=\"InternalRef\"\u003e1\u003c/span\u003e).\u003c/p\u003e\u003cp\u003eNo significant differences in responses were observed based on patient age, race/ethnicity, or insurance status or practice setting.\u003c/p\u003e"},{"header":"Discussion","content":"\u003cp\u003eThis study highlights a significant gap in patient understanding of OCS, with more than half of surveyed patients either uncertain or incorrectly believing that cancer-related genes were included. This misinterpretation is clinically meaningful: patients may assume they have been tested for hereditary cancer risk when they have not, potentially delaying appropriate preventive care. At the same time, our findings reveal high patient interest in hereditary cancer testing during pregnancy. Nearly three-quarters of participants indicated they would accept combined OCS and HCS if offered. These results align with prior studies suggesting strong patient demand for cancer risk assessment during pregnancy.\u003csup\u003e\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e, \u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e\u003c/sup\u003e Existing modeling analyses have further demonstrated that adding BRCA testing at the time of OCS is cost-effective, with the potential to prevent cancer cases and deaths.\u003csup\u003e\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e\u003c/sup\u003e\u003c/p\u003e\n\u003ch3\u003eClinical Implications\u003c/h3\u003e\n\u003cp\u003ePregnancy represents a unique window of opportunity for genetic testing. Nearly all women engage with the healthcare system during this period and many undergo some form of genetic screening. Integrating hereditary cancer testing into OCS could: 1) Increase identification of high-risk individuals at a life stage where preventive actions are most impactful. 2) Facilitate early initiation of enhanced surveillance, chemoprevention, or risk-reducing surgery. 3) Offer critical information during family planning and reproductive decision-making\u003c/p\u003e\u003cp\u003eComprehensive pre-test counseling is essential to ensure patients understand the scope of OCS, particularly as panels expand. Addressing misconceptions proactively can prevent false reassurance and build patient trust in genetic services.\u003c/p\u003e\u003cdiv id=\"Sec8\" class=\"Section2\"\u003e\u003ch2\u003eStrengths and Limitations\u003c/h2\u003e\u003cp\u003eStrengths of this study include its diverse patient sample across multiple practices within an academic institution and its direct engagement with patients to assess understanding. Limitations include the single-institution design, potential recall bias from surveying patients several weeks after results disclosure, voluntary uptake of OCS introducing selection bias, and a 50% response rate. While we did not identify any patient characteristics that impacted response to survey questions, the study had a small sample size and was not powered to address this question.\u003c/p\u003e\u003c/div\u003e\n\u003ch3\u003eFuture Directions\u003c/h3\u003e\n\u003cp\u003e Our findings highlight the need for further research on implementing combined OCS/HCS in preconception and prenatal care across diverse healthcare settings. Future studies should evaluate how to optimize counseling and address potential stress or anxiety associated with cancer genetic testing in pregnancy, while also ensuring equitable access to these services.\u003c/p\u003e"},{"header":"Conclusions","content":"\u003cp\u003eThis quality improvement initiative demonstrates that a substantial proportion of pregnant patients misunderstand the scope of OCS, with many incorrectly believing hereditary cancer genes are included. At the same time, there is strong patient interest in combined OCS and HCS, with 73% stating they would have accepted such testing if offered. These findings underscore both a gap in patient education and an opportunity to integrate hereditary cancer testing into prenatal care. Leveraging the unique window of pregnancy could expand access to lifesaving prevention and shift the paradigm of cancer genetics nationwide.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003ch2\u003eConflict of interest disclosure:\u003c/h2\u003e\u003cp\u003eMelissa K. Frey was supported by the following grants:\u003c/p\u003e\u003cp\u003e\u003cstrong\u003eCompeting Interests\u003c/strong\u003e\u003cp\u003eMelissa K. Frey was supported by the following grants:-American Board of Obstetrics and Gynecology / American Association of Obstetricians and Gynecologists Foundation (ABOG/AAOGF) Scholar AwardMelissa K. Frey reports consultation work for WndrHLTH.Jessica Scholl serves as the Weill Cornell Medicine site principal investigator for Natera's EXpanding Prenatal cell free DNA screening Across moNogenic Disorders (EXPAND) (Protocol ID: 23-075-WH)\u003c/p\u003e\u003c/p\u003e\u003ch2\u003eAuthor Contribution\u003c/h2\u003e\u003cp\u003eAR: Investigation, Data Curation, Formal Analysis, Writing \u0026ndash; original draft, SI: Writing \u0026ndash; Reviewing and Editing, SD: Project administration, Writing- Reviewing and Editing, RK: Project administration, Writing- Reviewing and Editing, JS: Project administration, Writing- Reviewing and Editing, MP: Conceptualization Resources, Project administration, ALO: Conceptualization Resources, Project administration, RS: Supervision, Writing \u0026ndash; reviewed \u0026amp; editing, MF \u0026ndash; Conceptualization, Methodology, Supervision, Project Administration, Writing \u0026ndash; Reviewing \u0026amp; Editing. All authors reviewed the manuscript.\u003c/p\u003e\u003ch2\u003eData Availability\u003c/h2\u003e\u003cp\u003eAll data supporting the findings of this study are available within the paper and its Supplementary Information.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003eCommittee Opinion No (2017) 691: Carrier Screening for Genetic Conditions. Obstet Gynecol 129(3):e41\u0026ndash;e55. \u003cdiv class=\"ExternalRefDOI\"\u003e10.1097\u003c/div\u003e/AOG.0000000000001952. PubMed PMID: 28225426\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eGregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T, Chen E, Sparks TN, Reddi HV, Rajkovic A, Dungan JS, Committee APPG (2021) Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med 23(10):1793\u0026ndash;1806 Epub 20210720. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.1038/s41436-021-01203-z\u003c/span\u003e\u003cspan address=\"10.1038/s41436-021-01203-z\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eRamdaney A, Lichten L, Propst L, Mann C, Lazarin GA, Jones M, Taylor A, Malinowski J (2022) Expanded carrier screening in the United States: A systematic evidence review exploring client and provider experiences. J Genet Couns 31(4):937\u0026ndash;948 Epub 20220225. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.1002/jgc4.1566\u003c/span\u003e\u003cspan address=\"10.1002/jgc4.1566\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eMakhnoon S, Lee M, Prasad T, Badalamenti A, Gurley T, Waters EA, Skinner CS (2024) Awareness, use, motivations and methods of accessing genetic testing in 2022 in the United States. Front Genet 15:1462831 Epub 20241108. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.3389/fgene.2024.1462831\u003c/span\u003e\u003cspan address=\"10.3389/fgene.2024.1462831\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eVan Steijvoort E, Chokoshvili D, Cannon W, Peeters J, Peeraer H, Matthijs K, Borry G (2020) Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature. Hum Reprod Update 26(3):335\u0026ndash;355. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.1093/humupd/dmaa001\u003c/span\u003e\u003cspan address=\"10.1093/humupd/dmaa001\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003ePubMed PMID: 32099997\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eM R. Making quality improvement simple: The Model for Improvement. InnovAiT: Education and inspiration for general practice. (2016) ;9(12)\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eGrant BJ, Chandler I, Son M, Dioun S, Mcdougale A, Sharaf RN, Frey MK (2025) Pregnancy: an underutilized window of opportunity for genetic cancer risk assessment. Am J Obstet Gynecol 232(1):e11\u0026ndash;e3 Epub 20240919. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.1016/j.ajog.2024.09.100\u003c/span\u003e\u003cspan address=\"10.1016/j.ajog.2024.09.100\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eKaphingst KA, Bather JR, Daly BM, Chavez-Yenter D, Vega A, Kohlmann WK (2022) Interest in Cancer Predisposition Testing and Carrier Screening Offered as Part of Routine Healthcare Among an Ethnically Diverse Sample of Young Women. Front Genet 13:866062 Epub 20220414. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.3389/fgene.2022.866062\u003c/span\u003e\u003cspan address=\"10.3389/fgene.2022.866062\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eDioun SM, Perez LR, Prabhu M, Brewer JT, Ahsan MD, Hou JY, Sharaf RN, Wright JD, Frey MK (2024) Cost-effectiveness of BRCA1 testing at time of obstetrical prenatal carrier screening for cancer prevention. Am J Obstet Gynecol. Epub 20240413. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.1016/j.ajog.2024.04.014\u003c/span\u003e\u003cspan address=\"10.1016/j.ajog.2024.04.014\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e. PubMed PMID: 38621481\u003c/span\u003e\u003c/li\u003e\u003c/ol\u003e"},{"header":"Tables","content":"\u003cp\u003e\u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab1\" border=\"1\"\u003e\u003ccaption language=\"En\"\u003e\u003cdiv class=\"CaptionNumber\"\u003eTable 1\u003c/div\u003e\u003cdiv class=\"CaptionContent\"\u003e\u003cp\u003eSurvey exploring patient understanding of obstetric carrier screening.\u003c/p\u003e\u003c/div\u003e\u003c/caption\u003e\u003ccolgroup cols=\"3\"\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e\u003cthead\u003e\u003ctr\u003e\u003cth align=\"left\" colspan=\"2\" nameend=\"c2\" namest=\"c1\"\u003e\u003cp\u003eQuestion\u003c/p\u003e\u003c/th\u003e\u003cth align=\"left\" colname=\"c3\"\u003e\u003cp\u003eN / %\u003c/p\u003e\u003c/th\u003e\u003c/tr\u003e\u003ctr\u003e\u003cth align=\"left\" colspan=\"3\" nameend=\"c3\" namest=\"c1\"\u003e\u003cp\u003eDid you receive counseling about obstetric carrier screening prior to the testing?\u003c/p\u003e\u003c/th\u003e\u003c/tr\u003e\u003c/thead\u003e\u003ctbody\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eYes\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e94\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eNo\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e4\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eUncertain\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e2\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colspan=\"3\" nameend=\"c3\" namest=\"c1\"\u003e\u003cp\u003e\u003cb\u003eDo you know what genes/conditions are evaluated with obstetric carrier screening?\u003c/b\u003e\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eYes\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e53\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eNo\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e34\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eUncertain\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e13\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colspan=\"3\" nameend=\"c3\" namest=\"c1\"\u003e\u003cp\u003e\u003cb\u003eDo you think that the obstetric carrier screening you completed included cancer-related genes?\u003c/b\u003e\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eYes\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e19\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eNo\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e48\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eUncertain\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e33\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colspan=\"3\" nameend=\"c3\" namest=\"c1\"\u003e\u003cp\u003e\u003cb\u003eDo you think cancer-related genetic testing should be offered with obstetric carrier screening?\u003c/b\u003e\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eYes\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e61\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eNo\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e15\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eUncertain\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e24\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colspan=\"3\" nameend=\"c3\" namest=\"c1\"\u003e\u003cp\u003e\u003cb\u003eIf screening for cancer genes had been offered to you with your obstetric carrier screening, would you have been interested in completing both types of genetic testing?\u003c/b\u003e\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eYes\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e73\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eNo\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e16\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eUncertain\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e11\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003c/tbody\u003e\u003c/colgroup\u003e\u003c/table\u003e\u003c/div\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":true,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"familial-cancer","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"fame","sideBox":"Learn more about [Familial Cancer](http://link.springer.com/journal/10689)","snPcode":"10689","submissionUrl":"https://submission.nature.com/new-submission/10689/3","title":"Familial Cancer","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"em","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false},"keywords":"Genetic testing, Hereditary cancer screening, Obstetric carrier screening, Prenatal testing","lastPublishedDoi":"10.21203/rs.3.rs-8117630/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-8117630/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eObstetric carrier screening (OCS) is recommended for all individuals during pregnancy by leading professional societies. However, patient understanding of the scope and limitations of OCS remains poorly characterized, especially with regards to inclusion of cancer genes on OCS panels. This quality improvement initiative evaluated pregnant patients\u0026rsquo; knowledge of their OCS results. We contacted 100 pregnant patients who had recently completed OCS and participated in a structured telephone interview following physician disclosure of results. When asked about the content of OCS, 52% of patients were unsure or incorrectly believed that cancer-related genes were included on the panel. After clarification of the specific genes and syndromes tested, 73% of patients reported that they would have elected to undergo hereditary cancer screening had it been offered concurrently with OCS. These findings reveal substantial gaps in patient comprehension of OCS and suggest that many pregnant patients incorrectly assume that cancer susceptibility genes are included in their testing. The high level of interest in hereditary cancer screening following clarification underscores pregnancy as a unique window of opportunity to expand access to cancer genetics. Integrating cancer risk assessment into obstetric care may improve uptake of preventive strategies and broaden the impact of genomics on women\u0026rsquo;s health.\u003c/p\u003e","manuscriptTitle":"Misinterpreting the Results: Patient Misconceptions about Genetic Cancer Risk after Obstetrical Carrier Screening Shortened Title: Perceptions of Genetic Cancer Risk in Prenatal Carrier Screening","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-12-12 01:13:58","doi":"10.21203/rs.3.rs-8117630/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"Revision requested","date":"2026-01-07T08:19:53+00:00","index":"","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2025-12-25T16:03:54+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"319615337672690395877008134964155845273","date":"2025-12-09T02:48:08+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"53690315854820509282574938874635706036","date":"2025-12-08T15:57:58+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"164723531554336718307456841150321690778","date":"2025-12-08T08:45:38+00:00","index":"hide","fulltext":""},{"type":"reviewersInvited","content":"","date":"2025-12-07T07:14:21+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2025-11-19T08:39:11+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2025-11-19T08:35:49+00:00","index":"","fulltext":""},{"type":"submitted","content":"Familial Cancer","date":"2025-11-14T18:35:40+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"familial-cancer","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"fame","sideBox":"Learn more about [Familial Cancer](http://link.springer.com/journal/10689)","snPcode":"10689","submissionUrl":"https://submission.nature.com/new-submission/10689/3","title":"Familial Cancer","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"em","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false}}],"origin":"","ownerIdentity":"25f67195-ceb4-4780-a80b-72b154a3d8e4","owner":[],"postedDate":"December 12th, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"published-in-journal","subjectAreas":[],"tags":[],"updatedAt":"2026-02-23T16:02:50+00:00","versionOfRecord":{"articleIdentity":"rs-8117630","link":"https://doi.org/10.1007/s10689-026-00536-5","journal":{"identity":"familial-cancer","isVorOnly":false,"title":"Familial Cancer"},"publishedOn":"2026-02-18 15:59:02","publishedOnDateReadable":"February 18th, 2026"},"versionCreatedAt":"2025-12-12 01:13:58","video":"","vorDoi":"10.1007/s10689-026-00536-5","vorDoiUrl":"https://doi.org/10.1007/s10689-026-00536-5","workflowStages":[]},"version":"v1","identity":"rs-8117630","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-8117630","identity":"rs-8117630","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}