Journal of Genetic Counseling最新文献

{"title":"Genetic education and peer support among Ashkenazi Jewish women in the United States at risk for and surviving with breast cancer","authors":"Talia Zamir,&nbsp;Muriel R. Statman,&nbsp;Marcelo M. Sleiman Jr.,&nbsp;Duye Liu,&nbsp;Adina Fleischmann,&nbsp;Elana Silber,&nbsp;Kenneth P. Tercyak","doi":"10.1002/jgc4.70121","DOIUrl":"10.1002/jgc4.70121","url":null,"abstract":"<p>Ashkenazi Jewish women are at significantly increased risk for hereditary breast and ovarian cancer (HBOC) due to the high prevalence of <i>BRCA</i> founder variants. Community-based organizations (CBOs) offer culturally tailored support through programs like peer support and genetic education, but limited research has explored how these services are offered and utilized in this population. Therefore, we conducted a secondary analysis of post-program survey data from <i>N</i> = 1054 women served by a national cancer support organization. Among high-risk Ashkenazi Jewish women (<i>N</i> = 429), we examined patterns of genetic education and peer support program offering and utilization, patient navigation (PN) quality, care satisfaction, and health-related quality of life (QoL). Among high-risk Ashkenazi Jewish women, 78% were offered peer support and 33% utilized it; 59% were offered genetic education and 17% utilized it. Notably, women with poorer QoL were significantly more likely to be offered (χ² = 8.06, <i>p</i> = 0.045) and utilize (<i>t</i> = −2.40, <i>p</i> = 0.009) peer support. Utilization of genetic education was more common among women with higher cancer risk (χ² = 5.94, <i>p</i> = 0.049). Both programs were viewed favorably among those who participated, with users reporting increased support and decision-making confidence. Women who were offered peer support reported significantly higher PN quality (<i>t</i> = 3.7, <i>p</i> &lt; 0.001) and greater satisfaction with CBO care (<i>t</i> = 3.09, <i>p</i> = 0.001) than those not offered the service. Similarly, women offered genetic education reported significantly higher PN quality (<i>t</i> = 3.99, <i>p</i> &lt; 0.001) and CBO care satisfaction (<i>t</i> = 5.38, <i>p</i> &lt; 0.001) compared to those not offered the service. However, dual utilization of both programs was uncommon: among women offered both (<i>N</i> = 217) services, only 27% used both, suggesting potential barriers to concurrent engagement. CBO-led peer support and genetic education may improve care satisfaction and psychosocial outcomes for Ashkenazi Jewish women navigating HBOC. Future efforts should explore integrated models that reduce barriers to dual participation and enhance continuity of care across services.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12516022/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145281932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early-career genetic counselors' professional identity formation through experiences with continuing education at a professional conference","authors":"Rachel Mills,&nbsp;Susan J. Barcinas","doi":"10.1002/jgc4.70120","DOIUrl":"10.1002/jgc4.70120","url":null,"abstract":"<p>This research aimed to describe professional identity (PI) and professional identity formation (PIF) of early-career genetic counselors (GCs) attending a professional conference. PI is a sense of self within a professional community and includes interpersonal and intrapersonal characteristics that reflect shared values of the field. PI can be learned through modeling in settings like conferences where professionals assemble and are engaged in continuing education (CE). Using a particularistic case study methodology and a social learning theory frame, this study explored how PI is modeled and the experiences that contribute to feelings of belonging in the profession. Participants were newly certified GCs who attended the 2022 National Society of Genetic Counselors Annual Conference. Sixteen participants completed a reflective writing prompt and two semi-structured interviews. Inductive open coding and refinement of codes resulted in four primary collective themes. (1) Awareness of PI and PIF: All participants described elements of the collective identity of GCs, though most were unaware of the term “professional identity.” (2) Modeling of PI and PIF: Elements of identity were modeled in CE sessions and social settings. Participants noted concordance and discordance with other GCs, including perceived discrepancies between early-career and experienced GCs on the value of diversity and inclusivity. (3) Conference experience: In-person and virtual conference formats differed in community-building, inclusion, accessibility, and socialization. (4) Factors/experiences influencing belonging: Sense of community, CE session content, affirmation from others, and personal identity or characteristics like appearance impacted feelings of belonging. Findings indicate early-career GCs have emerging awareness of PI, suggesting opportunities to integrate strategies that promote PIF and strengthen PI, including equitable social opportunities for in-person and virtual attendees. Early-career GCs described how others influence feelings of belonging, highlighting a role for all GCs in supporting PIF.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12516107/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145281921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inclusive genetic counseling for LGBTQ+ clients: A qualitative study of reproductive genetic counselors' experiences and perspectives","authors":"Claudia Borodziuk,&nbsp;Julia Wynn,&nbsp;Nina Harkavy,&nbsp;Amanda L. Bergner,&nbsp;Michelle E. Florido","doi":"10.1002/jgc4.70111","DOIUrl":"10.1002/jgc4.70111","url":null,"abstract":"<p>The availability of assisted reproductive technologies has enabled the lesbian, gay, bisexual, transgender, queer, and other marginalized sexual orientations and gender identities (LGBTQ+) community to pursue reproductive healthcare services for family planning, including genetic testing and counseling. However, this group often encounters obstacles to equitable reproductive care related to discrimination, and genetic counselors (GCs) often feel underprepared to support LGBTQ+ clients. Limited literature exists on the interactions between reproductive GCs and LGBTQ+ clients, indicating a need for better understanding of how GCs can provide effective care to LGBTQ+ individuals seeking reproductive services. Using a semi-structured interview guide, we conducted in-depth interviews with 17 GCs practicing in preconception and/or prenatal genetics to examine their experiences and practices of LGBTQ+ inclusivity. Interviews were transcribed, coded, and thematically analyzed to identify broader patterns. Four thematic categories were produced in the reflexive thematic coding process: (1) obstacles for LGBTQ+ clients in navigating reproductive genetics; (2) challenges and opportunities experienced by GCs regarding LGBTQ+ inclusivity; (3) counseling strategies used by GCs to provide LGBTQ-inclusive care, as well as challenges and motivations in incorporating such strategies; and (4) the importance of LGBTQ+ topics in graduate training and continuing education in shaping GC practices of LGBTQ+ inclusivity. The results illustrate that although GCs recognize the impact of anti-LGBTQ+ discrimination on their clients and counseling, they and other providers often experience difficulties or reluctance with implementing LGBTQ-inclusive practices. Additionally, while participants described using various LGBTQ-inclusive counseling strategies, inconsistency and insufficient training in such practices suggest there is a need for meaningful continuing education on LGBTQ+ topics. These findings underscore the value of broad applications of LGBTQ-inclusive counseling in reproductive genetics, as well as the importance of continuing education to promote LGBTQ+ inclusivity and strengthen inclusive counseling skills.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145253800","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of barriers to pancreatic cancer surveillance in high-risk individuals","authors":"Grace G. Snyder,&nbsp;Daniel Clay,&nbsp;Sara Karley,&nbsp;Samantha Pipito,&nbsp;Rebecca Mueller,&nbsp;Angela Bradbury,&nbsp;Kara Maxwell,&nbsp;Katherine L. Nathanson,&nbsp;Mersedeh Rohanizadegan,&nbsp;Payal Shah,&nbsp;Susan M. Domchek,&nbsp;Jessica M. Long,&nbsp;Bryson W. Katona","doi":"10.1002/jgc4.70117","DOIUrl":"10.1002/jgc4.70117","url":null,"abstract":"<p>Individuals with increased familial or genetic risk of pancreatic cancer (PC) may be recommended to undergo regular PC surveillance. Genetic counselors are often involved in discussions about PC surveillance for high-risk individuals (HRIs); however, barriers to HRIs' participation in PC surveillance are not well characterized. This study aimed to identify reasons that HRIs cease, defer, or do not commence recommended PC surveillance through telephone interviews. Participants either had prior annual PC surveillance with no surveillance completion in ≥2 years, had a ≥2-year period without surveillance completion, or had not completed an initial surveillance imaging study 3 months after it was ordered. Fifty telephone interviews were analyzed using directed content analysis. Twenty interviewees had familial PC (34.5%) and 38 (65.5%) had a pathogenic variant associated with increased PC risk, with <i>BRCA2</i> being the most common (<i>N</i> = 15, 25.9%). Interviewees were 74.1% women and 93.1% White with a median age of 63.0 years. Logistical barriers (<i>N</i> = 11, 34.4%), different healthcare professional recommendations (<i>N</i> = 9, 28.1%), other health issues (<i>N</i> = 8, 25.0%), and difficulty recalling surveillance recommendations (<i>N</i> = 8, 25.0%) were the top reasons for ceasing or deferring PC surveillance. Difficulty recalling surveillance recommendations (<i>N</i> = 5, 27.8%), cost (<i>N</i> = 4, 22.2%), and invasiveness of procedures (<i>N</i> = 4, 22.2%) were the top reasons for not commencing PC surveillance. Other reasons included the COVID-19 pandemic, moving from the service delivery area, cost, concerns about imaging studies, nonmedical life events, and fear. Several barriers identified in this study were consistent with barriers faced in screening for other more common cancers. These results demonstrate the need for targeted strategies to reduce PC surveillance barriers for HRIs. Furthermore, given that HRIs face multiple barriers to PC surveillance, it is important that cancer genetics professionals familiarize themselves with these barriers to reduce their impact and to facilitate recommended PC surveillance among HRIs.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70117","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145260269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Perceptions of patients and healthcare providers on BRCA testing in early-stage breast cancer: Qualitative research findings","authors":"Jagadeswara Rao Earla,&nbsp;Emily Mulvihill,&nbsp;Josh Lankin,&nbsp;Lauren Howell,&nbsp;Alexandra Kissling,&nbsp;Jaime Mejia,&nbsp;Xiaoqing Xu,&nbsp;Kathryn Mishkin","doi":"10.1002/jgc4.70108","DOIUrl":"https://doi.org/10.1002/jgc4.70108","url":null,"abstract":"<p>Research on motivators and barriers to genetic testing among patients with cancer has yet to evaluate the impact of targeted treatments. This study examined the perspectives of patients and healthcare providers (HCPs) on patient decision-making around genetic testing, specifically <i>gBRCA</i> (germline BReast CAncer gene) testing, in early-stage breast cancer (eBC). Semi-structured telephone interviews were performed in the United States with female patients diagnosed with eBC (<i>n</i> = 7 tested and 5 untested) in 2017 or later, and HCPs treating eBC patients, including medical oncologists (<i>n</i> = 12) and genetic counselors (GCs) (<i>n</i> = 8). Patients and HCPs were recruited via panel databases between January and February 2023. Patients, oncologists, and genetic counselors were asked about influences on BRCA testing and the selection of adjuvant genetically targeted treatment for patients with BRCA. Data were analyzed using deductive and inductive approaches using content analysis. Patients and HCPs saw having complete information about their breast cancer and treatment options as driving patients' choice to undergo genetic testing. Patients and oncologists also recognized the influence of physician recommendations to test and the importance of patients being able to share testing results with family. Reluctance to test was linked to perceived lack of benefit for the patient's family, fear of losing insurance coverage, and increasing patient worries. HCPs indicated that testing is further impeded by patients' distrust of the medical community and the limited availability of genetic counselors. Patients were interested in treatments with high efficacy that would lower the chance of cancer recurrence, including targeted therapies. In choosing both testing and treatment, patients value information that can empower them to achieve their goals of normalcy and remission. Oncologists and GCs can respect patients' values and goals by engaging them in the decisions for testing and treatment.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145146795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"NSGC 2025 incoming presidential address","authors":"Sara Pirzadeh-Miller","doi":"10.1002/jgc4.70115","DOIUrl":"https://doi.org/10.1002/jgc4.70115","url":null,"abstract":"<p>The 2025 incoming presidential address outlines reflections on a personal leadership journey that positions the incoming president for success in this particular era, and presents a vision for advancing the genetic counseling profession. The development of leadership values in the journey were grounded in resilience, collaboration, and the integration of diverse perspectives. Building on this foundation, the address highlights forthcoming milestones that will shape the field. The achievement of Medicare recognition for genetic counselors is described as a pivotal step toward expanding patient access, promoting equity in genomic healthcare, and ensuring the sustainability of practice. Beyond reimbursement, the importance of securing representation at decision-making tables is emphasized, with the goal of positioning genetic counselors to influence healthcare policy, genomic professional strategy, and clinical innovation. The vision also includes efforts to elevate public awareness, advancing the visibility of genetic counselors to establish the profession as widely recognized and valued across healthcare and society. Modernization of clinical practice is discussed as an essential priority to adapt to rapidly evolving genomic technologies, emerging care models with increasing patient demand, and better integration and sustainability throughout the national healthcare system. The address also underscores the organizational responsibility to create and sustain an environment of inclusion and belonging, fostering professional growth and engagement for all members. Together, these themes articulate a comprehensive framework for leadership and organizational action, aimed at strengthening the profession's role in delivering equitable, innovative, and patient-centered genomic care in any setting of practice.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70115","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145146605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring communication preferences for disclosing breast cancer risk in women with a family history","authors":"Adrià López-Fernández,&nbsp;Mònica Pardo,&nbsp;Eduard Pérez-Ballestero,&nbsp;Esther Darder,&nbsp;Rosa Alfonso,&nbsp;Sara Torres-Esquius,&nbsp;Víctor Navarro Garcés,&nbsp;Teresa Ramón y Cajal,&nbsp;Joan Brunet,&nbsp;Judith Balmaña","doi":"10.1002/jgc4.70114","DOIUrl":"10.1002/jgc4.70114","url":null,"abstract":"<p>Effective breast cancer (BC) screening relies on shared decision-making and clear communication to help patients understand their risk and choose strategies aligned with that risk. The CanRisk tool was used to estimate BC risk in healthy women with a familial history of BC and the absence of a pathogenic variant in BC genes. Results were disclosed to patients using different formats, and data were collected to analyze the association between patient characteristics and risk communication preferences. Participants preferred their risk explained by percentages (59%) over fractions (15%), icon arrays (13%) or risk groups (13%) and 10-year risk estimation was favored to remaining lifetime risk (71% vs. 22%). Participants highlighted the use of positive and negative formats and comparison with the population's risk formats, and line graphic (61%) was selected over numerical table or a color-graph (19% each). However, participants with lower numeracy preferred color graphics (OR: 1.42; 95% CI 1.15–1.77 <i>p</i> = 0.001). The use of percentages, line graphics, and 10-year risk formats are highly accepted for healthy participants with a family history of BC, although adaptation may be needed for those with lower numeracy skills.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145082443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Developing global consensus about core knowledge and skills for genetic counselor education","authors":"Alison McEwen,&nbsp;Kelly E. Ormond,&nbsp;Yasmin Cathcart-King,&nbsp;HUGO Genetic Counselling Education Sub-Committee,&nbsp;Milena Paneque","doi":"10.1002/jgc4.70116","DOIUrl":"10.1002/jgc4.70116","url":null,"abstract":"<p>There are over 130 genetic counselor (GC) training programs documented in more than 30 countries. Some regions also have developed practice-based competencies and guidelines for accrediting GC training, often including lists of required curriculum items (for example: ACGC, CAGC, EBMG, HGSA). However, areas where genetic counseling is emerging or desired may struggle to create training approaches from these often-aspirational knowledge and skill development lists. In a collaborative effort between the Human Genome Organization (HUGO) Education Workgroup and the Transnational Alliance for Genetic Counseling (TAGC), we conducted a global consensus process to assess and deliberate over which knowledge and skills were broadly considered ‘core’ to the GC educational process. We utilized an online-modified Delphi process to survey a purposive global sample of GC education providers and members of credentialing boards from countries with established GC and medical genetics providers in areas where GC education is newly emerging. We identified a list of 64 potential topics through a literature review and review of relevant curriculum guidelines and professional competencies. We then assessed relevance in a 2-round survey process using the criteria of &gt;80% agreement. Topics that met these criteria, including those that were borderline, were discussed in two online consensus meetings. We present the consensus list of 25 content topics across four major areas of knowledge and skills: counseling and communication, genetics and genomics, medical knowledge, and genetic counseling healthcare professional skills and knowledge that we propose should be included in the GC curriculum for countries where GCs are new or emerging. We also propose 11 additional “Tier 2” topics that could be considered depending on regional needs or as countries evolve the profession.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12445634/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145088437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Well-being and self-care strategies for cardiovascular genetic counselors: A qualitative study","authors":"Laura Yeates,&nbsp;Lucas A. Mitchell,&nbsp;Ivan Macciocca,&nbsp;Helen Mountain,&nbsp;Mary-Anne Young,&nbsp;Colleen Caleshu,&nbsp;Alison McEwen,&nbsp;Jodie Ingles","doi":"10.1002/jgc4.70113","DOIUrl":"https://doi.org/10.1002/jgc4.70113","url":null,"abstract":"<p>Repeated exposure to challenging clinical situations impacts healthcare professionals' well-being. Genetic counselors assist individuals to understand and adapt to difficult medical information, which often has implications for close family members. In the cardiac setting, managing families with profound grief and trauma following sudden cardiac death can be difficult, with potential for burnout and compassion fatigue. The aim of this study was to explore the impact of cardiovascular genetic counseling practice on genetic counselor well-being and describe self-care practices. Participants were recruited through the Australasian Society of Genetic Counselors. Semi-structured interviews explored challenges in cardiovascular genetic counseling practice, supervision, and self-care. Interview transcripts were analyzed using reflexive thematic analysis. Self-reported demographics, psychological well-being, and burnout measures were used. Eighteen genetic counselors participated. Median interview length was 54 min (range 40–74). All participants were female and 83% of European ethnicity. Few reported mild or moderate depression symptoms (17%), mild or moderate anxiety symptoms (22%), and none (0%) had scores indicating stress. Three (17%) had scores indicating burnout. Reflexive thematic analysis generated three themes: (1) cardiovascular genetic counseling is different, not harder or easier; (2) workplace pressures affect well-being; (3) a self-care “tool kit” is necessary and supervision is a key component. Genetic counseling practice and workload can affect well-being. A genetic counselor self-care ‘tool kit’ that includes supervision helps maintain well-being.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145058036","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Outcomes of pregnancies that screened positive for sex chromosome aneuploidy ascertained via cell-free DNA screening","authors":"Cali FitzGerald,&nbsp;Shama P. Khan,&nbsp;Pranali Shingala,&nbsp;Gary Heiman,&nbsp;Elena Ashkinadze","doi":"10.1002/jgc4.70107","DOIUrl":"https://doi.org/10.1002/jgc4.70107","url":null,"abstract":"<p>Cell-free DNA screening (cfDNA), also referred to as noninvasive prenatal screening (NIPS), is utilized to screen for fetal chromosomal aneuploidies during pregnancy, including sex chromosome aneuploidies (SCAs). All patients within our center are offered diagnostic testing following a positive cfDNA for an SCA, but not all patients pursue this testing. This retrospective chart review aims to improve understanding of how often patients undergo confirmatory diagnostic testing when cfDNA is positive or inconclusive for an SCA and the pregnancy outcomes, including pregnancy termination and live birth rates. We also describe the outcomes of cases where patients had a normal cfDNA result; however, the cfDNA-predicted fetal sex is discrepant from the ultrasound-predicted fetal sex. The study found that 56 patients had a positive or inconclusive cfDNA for SCA, and 36/56 (64.3%) pursued confirmatory testing either via prenatal (19 patients) or postnatal (17 patients) diagnostic testing. For the cases where confirmatory diagnostic information was available, an SCA was confirmed in 16/36 (44.4%). A birthing parent SCA was discovered to be the likely cause of a positive cfDNA in two cases. The positive predictive value (PPV) of cfDNA was 41.7% for all SCAs, 27.8% for Turner syndrome, 50.0% for triple X syndrome, 100% for Klinefelter syndrome, 100% for Jacobs syndrome, and 0% for inconclusive results. Nine patients had a negative cfDNA; however, the cfDNA-predicted fetal chromosomal sex was discrepant from the fetal phenotypic sex predicted by ultrasound. In 3/9 cases, this led to a fetal ascertainment of a difference of sex development (DSD), which would not have been possible without the cfDNA result.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70107","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145058035","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}