Journal of Community Genetics最新文献_第3页

Parental perspectives regarding the return of genomic research results in neurodevelopmental disorders in South Africa: anticipated impact and preferences. 南非家长对返还神经发育障碍基因组研究成果的看法：预期影响和偏好。

IF 1.5

Journal of Community Genetics Pub Date : 2024-10-01 Epub Date: 2024-08-02 DOI: 10.1007/s12687-024-00723-w

Angelique Diedericks, Zandré Bruwer, Nakita Laing, Emma Eastman, Jantina De Vries, Charles R Newton, Amina Abubakar, Elise B Robinson, Kirsten A Donald

{"title":"Parental perspectives regarding the return of genomic research results in neurodevelopmental disorders in South Africa: anticipated impact and preferences.","authors":"Angelique Diedericks, Zandré Bruwer, Nakita Laing, Emma Eastman, Jantina De Vries, Charles R Newton, Amina Abubakar, Elise B Robinson, Kirsten A Donald","doi":"10.1007/s12687-024-00723-w","DOIUrl":"10.1007/s12687-024-00723-w","url":null,"abstract":"Few policies and little research exist regarding the disclosure of genomic results to research participants in Africa. As understanding participant preferences would be pivotal to the success of the feedback process, this study set out to address this issue by engaging with enrolled participants from an ongoing genomics research project on neurodevelopmental disorders with the aim to assess the anticipated impact of receiving pertinent results and explore the preferences for feedback in a South African context. Twelve semi-structured interviews were conducted with 17 parents of children participating in the research study. Transcribed interview data and observational notes were analysed using thematic analysis and framework matrices. Participants linked their own meaning to the impact of receiving a pertinent result and perceived the information as useful for reasons other than only clinical utility. These included closure, improved management of their child's condition and information regarding recurrence risks. In terms of preferences for feedback, an in-person result delivery session, conducted by a member of the study team or medical professional familiar with their child was preferred. In addition, participants felt a sense of ownership over their blood or their contribution to the research study, finding meaning even in non-pertinent results. These findings provide insight into the type of discussions that may be valuable in enabling the development of best practices and guidelines for the return of individual genetic research results, in a culturally appropriate manner, within South African communities.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11549274/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141876349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Improving the communication of multifactorial cancer risk assessment results for different audiences: a co-design process. 针对不同受众改进多因素癌症风险评估结果的传播：共同设计过程。

IF 1.5

Journal of Community Genetics Pub Date : 2024-10-01 Epub Date: 2024-09-25 DOI: 10.1007/s12687-024-00729-4

Francisca Stutzin Donoso, Tim Carver, Lorenzo Ficorella, Nichola Fennell, Antonis C Antoniou, Douglas F Easton, Marc Tischkowitz, Fiona M Walter, Juliet A Usher-Smith, Stephanie Archer

{"title":"Improving the communication of multifactorial cancer risk assessment results for different audiences: a co-design process.","authors":"Francisca Stutzin Donoso, Tim Carver, Lorenzo Ficorella, Nichola Fennell, Antonis C Antoniou, Douglas F Easton, Marc Tischkowitz, Fiona M Walter, Juliet A Usher-Smith, Stephanie Archer","doi":"10.1007/s12687-024-00729-4","DOIUrl":"10.1007/s12687-024-00729-4","url":null,"abstract":"Background: Multifactorial cancer risk prediction tools, such as CanRisk, are increasingly being incorporated into routine healthcare. Understanding risk information and communicating risk is challenging and healthcare professionals rely substantially on the outputs of risk prediction tools to communicate results. This work aimed to produce a new CanRisk report so users can directly access key information and communicate risk estimates effectively.Methods: Over a 13-month period, we led an 8-step co-design process with patients, the public, and healthcare professionals. Steps comprised 1) think aloud testing of the original CanRisk report; 2) structured feedback on the original report; 3) literature review; 4) development of a new report prototype; 5) first round of structured feedback; 6) updating the new report prototype; 7) second round of structured feedback; and 8) finalising and publishing the new CanRisk report.Results: We received 56 sets of feedback from 34 stakeholders. Overall, the original CanRisk report was not suitable for patients and the public. Building on the feedback, the new report has an overview of the information presented: section one summarises key information for individuals; sections two and three present information for healthcare professionals in different settings. New features also include explanatory text, definitions, graphs, keys and tables to support the interpretation of the information.Discussion: This co-design experience shows the value of collaboration for the successful communication of complex health information. As a result, the new CanRisk report has the potential to better support shared decision-making processes about cancer risk management across clinical settings.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11549070/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142336838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study. 在按基因型回忆的研究方法中，如何与参与者沟通以及披露哪些信息：一项多步骤实证研究。

IF 1.5

Journal of Community Genetics Pub Date : 2024-09-26 DOI: 10.1007/s12687-024-00733-8

Katharina Tschigg, Luca Consoli, Norbert Brüggemann, Andrew A Hicks, Ciara Staunton, Deborah Mascalzoni, Roberta Biasiotto

{"title":"How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study.","authors":"Katharina Tschigg, Luca Consoli, Norbert Brüggemann, Andrew A Hicks, Ciara Staunton, Deborah Mascalzoni, Roberta Biasiotto","doi":"10.1007/s12687-024-00733-8","DOIUrl":"https://doi.org/10.1007/s12687-024-00733-8","url":null,"abstract":"Recall-by-genotype (RbG) is a bottom-up approach using existing genetic data to design follow-up stratified studies. Genetic information may be partially disclosed at invitation, thus raising ethical issues which call for defined best practices for disclosure and communication in RbG approaches. Within the context of the ProtectMove sub-project of the Cooperative Health Research in South Tyrol (CHRIS) study, we investigated research participant perspectives on RbG communication strategies (Step 1 and 4, questionnaire with a subsample of CHRIS participants with and without previous experience of RbG, respectively). Additionally, we explored researchers' and study personnel's experience with RbG (Step 2 and 3, focus group discussion). In step 1 (N = 95), participants were generally satisfied with the study process. Most (71.6%) wanted to know their carrier status for personal and collective benefit. Tailored disclosure strategies and transparent, effective, and well-thought-out communication approaches were advocated by study personnel (Step 2, N = 6) and researchers (Step 3, N = 7). Challenges in dealing with uncertainty, concerns caused by RbG invitations, and the possibility of misunderstanding were also raised. In step 4 (N = 369), participants valued being informed of study details at the first invitation stage, and generally felt comfortable towards RbG study invitations (58.5%) and to receiving genetic information after the study (58.5-81.6%). Comfort and perceived impact of disclosure of genetic information varied according to the type of variant being potentially disclosed. This study suggested designing communication strategies, based on clear and understandable explanations, sensitive to participant expectations and preferences, developing case-by-case solutions for disclosure.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142336837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Building a National Policy for Rare Disease in Brazil. 在巴西制定国家罕见病政策。

IF 1.5

Journal of Community Genetics Pub Date : 2024-09-26 DOI: 10.1007/s12687-024-00732-9

Têmis Maria Félix, Bibiana Mello de Oliveira, Dafne Dain Gandelman Horovitz

{"title":"Building a National Policy for Rare Disease in Brazil.","authors":"Têmis Maria Félix, Bibiana Mello de Oliveira, Dafne Dain Gandelman Horovitz","doi":"10.1007/s12687-024-00732-9","DOIUrl":"https://doi.org/10.1007/s12687-024-00732-9","url":null,"abstract":"Rare diseases (RD) are individually rare, although encompass a significant proportion of the population, affecting not only the individuals but also their families. In Brazil RD is defined by the Ministry of Health as a disorder that affects up to 65 individuals in 100,000, or 1.3 individuals in every 2,000. In this review the environment that led to the publication of a National Policy for Comprehensive Care for People of Rare Disease in 2014, a national plan with the aim to decrease morbidity and mortality of RD, improving the care of people with RD in the public health system are described. The process that finally led to such policy took over a decade, moving forward not only due to technical needs, but having patient organizations as essential actors and advocates. Specialized centers in RD were licensed and, since its publication, 33 centers have been accredited; such process, however, has been slow and concentrated in specific regions and larger cities of the country. Despite the incorporation of genetic tests in 2014 and exome sequencing later in 2020, many genetic tests are not offered by specialized centers, with unequal availability across the country. Public health system in Brazil uses ICD-10 for disease coding, preventing appropriate epidemiologic knowledge of RD in Brazil. Incorporation of new technologies as orphan drugs has been in place and regulation for expedite licensing for new RD drugs were issued, although high cost and availability to RD population has been a challenge.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142336835","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

From stigma to increased social acceptance? Living with Machado-Joseph disease in São Miguel, Azores, Portugal. 从蒙受耻辱到提高社会认可度？葡萄牙亚速尔群岛圣米格尔的马查多-约瑟夫病患者生活。

IF 1.5

Journal of Community Genetics Pub Date : 2024-08-31 DOI: 10.1007/s12687-024-00731-w

Daniela Couto, Jorge Sequeiros, Manuela Lima, Liliana Sousa, Álvaro Mendes

{"title":"From stigma to increased social acceptance? Living with Machado-Joseph disease in São Miguel, Azores, Portugal.","authors":"Daniela Couto, Jorge Sequeiros, Manuela Lima, Liliana Sousa, Álvaro Mendes","doi":"10.1007/s12687-024-00731-w","DOIUrl":"https://doi.org/10.1007/s12687-024-00731-w","url":null,"abstract":"This study describes the experiences with the stigma attached to Machado-Joseph disease (MJD) in São Miguel Island, the Azores (Portugal). We draw on semi-structured interviews with persons with MJD, family members, healthcare professionals, and direct care providers recruited through the local patient's association (n = 28). Qualitative thematic analysis revealed three main themes: (i) the intense stigma associated with MJD in the past; (ii) the current tendency towards increased openness; and (iii) increased availability of information about MJD and support. The findings suggest that stigmatization was more frequent and intense in the past. Still, there is currently a decrease in the intensity of perceived stigma, accompanied by an increasing awareness about MJD within the community. The local patient's association is noted for playing a pivotal role in raising awareness about MJD in the community and fostering the confidence of individuals with MJD and their families to engage socially, which may help to reduce or mitigate feelings of stigma. This raises questions about whether the diminished stigma towards MJD in São Miguel results from heightened awareness about the condition, a decrease in the social acceptability of stigma, or a gradual internalization and normalization of stigma among individuals with MJD as a coping mechanism.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142113352","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Deciphering the needs of patients with hereditary breast and ovarian Cancer in the Process of Genetic Counseling to Inform the Development of a Mobile Support App: a qualitative study in Germany. 解读遗传性乳腺癌和卵巢癌患者在遗传咨询过程中的需求，为开发移动支持应用程序提供参考：德国的一项定性研究。

IF 1.5

Journal of Community Genetics Pub Date : 2024-08-19 DOI: 10.1007/s12687-024-00727-6

Nils Ammon, Chiara Reichert, Thomas Kupka, Steffen Oeltze-Jafra, Anke Katharina Bergmann, Brigitte Schlegelberger, Dominik Wolff, Beate Vajen

{"title":"Deciphering the needs of patients with hereditary breast and ovarian Cancer in the Process of Genetic Counseling to Inform the Development of a Mobile Support App: a qualitative study in Germany.","authors":"Nils Ammon, Chiara Reichert, Thomas Kupka, Steffen Oeltze-Jafra, Anke Katharina Bergmann, Brigitte Schlegelberger, Dominik Wolff, Beate Vajen","doi":"10.1007/s12687-024-00727-6","DOIUrl":"https://doi.org/10.1007/s12687-024-00727-6","url":null,"abstract":"Patients with hereditary breast and ovarian cancer (HBOC) are not only concerned about their own health but also about that of their children, grandchildren, and other relatives. Therefore, they have specific needs for information and support. During genetic counseling guidance is provided to HBOC patients and other individuals who may be at risk for familial cancer. The purpose of the study was to identify the needs of HBOC patients during the genetic counseling process that could be addressed by digital solutions. Nine semi-structured qualitative interviews were conducted. Overall, the patients appreciated the personal contact with human geneticists as an especially positive factor in the genetic counseling process. However, patients noted the following needs (1) support in the time following genetic counseling, (2) support before genetic counseling by collecting own and familial medical information, (3) Need for contact options to support services, (4) Need for patient-friendly medical information, (5) Wish for administration-related components in a support app. The results will inform the development of a patient-centered mobile support app.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142001012","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Teaching and training of human resources for genetics and genomics in Brazil. 巴西遗传学和基因组学人力资源的教学和培训。

IF 1.5

Journal of Community Genetics Pub Date : 2024-08-13 DOI: 10.1007/s12687-024-00726-7

Fernanda Teresa de Lima, Maria Angélica de Faria Domingues de Lima, Patrícia Santana Correia, Rachel Sayuri Honjo, Rayana Elias Maia, Sandra Obikawa Kyosen, Débora Gusmão Melo

{"title":"Teaching and training of human resources for genetics and genomics in Brazil.","authors":"Fernanda Teresa de Lima, Maria Angélica de Faria Domingues de Lima, Patrícia Santana Correia, Rachel Sayuri Honjo, Rayana Elias Maia, Sandra Obikawa Kyosen, Débora Gusmão Melo","doi":"10.1007/s12687-024-00726-7","DOIUrl":"https://doi.org/10.1007/s12687-024-00726-7","url":null,"abstract":"This manuscript reviewed the state of the art about the teaching and training of human resources for genetics and genomics in Brazil. We presented the national scenario of teaching genetics in medical undergraduate and other health courses. We discussed the training of medical geneticists through medical residency and addressed the training in genetics of physicians from specialties other than genetics. We examined the training of health professionals specializing in genetics through lato sensu and stricto sensu postgraduate programs and presented the proposals for multi-professional residency in genetic counseling and genetics and genomics that are currently the subject of discussion in the country. Finally, we highlighted the importance of training primary health care professionals concerning genetics and genomics for the effective establishment of a line of care for individuals with genetic disorders in the Brazilian Unified Health System. Therefore, we provided a thorough overview of how genetics is (or is not) incorporated into professional training in a comprehensive public healthcare system such as the Brazilian.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141972095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

IF 1.5

Journal of Community Genetics Pub Date : 2024-08-01 Epub Date: 2024-05-25 DOI: 10.1007/s12687-024-00713-y

Carla Roma Oliveira, Catarina Seidi, Jorge Sequeiros, Liliana Sousa, Álvaro Mendes

{"title":"Health-related roles of older generations in families with inherited genetic conditions: a scoping review.","authors":"Carla Roma Oliveira, Catarina Seidi, Jorge Sequeiros, Liliana Sousa, Álvaro Mendes","doi":"10.1007/s12687-024-00713-y","DOIUrl":"10.1007/s12687-024-00713-y","url":null,"abstract":"Inherited genetic conditions are family diseases. They affect consanguineous relatives, in lineage for several generations, and impact the family dynamics. Older generations have been considered highly influential in the health management of families with inherited genetic conditions. To our knowledge, no reviews so far addressed the health-related roles of older generations in these families. This scoping review aims to fill that gap by mapping the existent research about the health-roles roles performed by the older generations in families living with autosomal dominant inherited genetic conditions. Four electronic databases were searched: Scopus, Web of Science, PubMed, PsycInfo. Eleven studies were included, and relevant findings were extracted. Main roles included: informers vs. blockers of disease-related information; encouragers vs. discouragers of health screening or genetic testing; (non-)supporters; and role models in living and coping with the disease. The roles played by older generations are relevant to the health management of other family members and can be beneficial to themselves (reciprocal interactions). Acknowledging and understanding these roles is important for professionals and health-services. Results suggest the relevance of an intergenerational perspective when working with families with inherited genetic conditions.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11411034/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141097138","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

"Living with a question mark": psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy. "带着问号生活"：有遗传性淀粉样转甲状腺素淀粉样变性伴多发性神经病风险的葡萄牙年轻人的社会心理体验。

IF 1.5

Journal of Community Genetics Pub Date : 2024-08-01 Epub Date: 2024-07-08 DOI: 10.1007/s12687-024-00717-8

José D Pereira, Catarina Costa, Andreia Santos, Marina S Lemos, Jorge Sequeiros, Milena Paneque, Álvaro Mendes

{"title":"\"Living with a question mark\": psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy.","authors":"José D Pereira, Catarina Costa, Andreia Santos, Marina S Lemos, Jorge Sequeiros, Milena Paneque, Álvaro Mendes","doi":"10.1007/s12687-024-00717-8","DOIUrl":"10.1007/s12687-024-00717-8","url":null,"abstract":"This study is the first to explore the psychosocial experience of young Portuguese adults at genetic risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy (hATTR-PN). The work focuses on the developmental peculiarities of their experience with the disease. Sixteen semi-structured interviews were conducted with young adults coming for pre-symptomatic testing (PST) at a single genetics outpatient center in Portugal. The data were analyzed qualitatively. The main findings suggest that four themes mark the psychosocial experience of the young adults interviewed. The first refers to the development of psychological representations, namely beliefs, mental representations, and social perceptions about hATTR-PN. The second regards the experienced and anticipated psychosocial impacts, namely, suffering, anxiety, and relief related to the disease. The third is related to using strategies such as performing PST, strategies focused on emotional regulation and the meaning of hATTR-PN, and social strategies to deal with these impacts over time. Finally, the fourth aspect concerns the perceived and expected support for the participants' needs provided by social contexts, that is, family and genetic counseling. In a period of life also marked by qualitatively different characteristics and developmental tasks from other life cycle stages (e.g., identity explorations, instability, and independent decision-making), experience with the disease can add psychosocial challenges to young adults at risk for hATTR-PN. Genetic counseling practices and health policies can be optimized to respond to the psychosocial needs of young adults. Future research should deepen the understanding of the psychosocial experience of individuals and families with late-onset hATTR-PN to improve the clinical response in this population.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11411036/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141555633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Prevalence of congenital anomalies and prenatal diagnosis by birth institution (public vs. non-public): indicators of inequality in access to elective termination of pregnancy for fetal anomalies. 按出生机构（公立与非公立）分列的先天畸形和产前诊断流行率：因胎儿畸形而选择终止妊娠的不平等指标。

IF 1.5

Journal of Community Genetics Pub Date : 2024-08-01 Epub Date: 2024-06-01 DOI: 10.1007/s12687-024-00714-x

Paloma Brun, Boris Groisman, María Paz Bidondo, Pablo Barbero, Marianela Trotta, Rosa Liascovich

{"title":"Prevalence of congenital anomalies and prenatal diagnosis by birth institution (public vs. non-public): indicators of inequality in access to elective termination of pregnancy for fetal anomalies.","authors":"Paloma Brun, Boris Groisman, María Paz Bidondo, Pablo Barbero, Marianela Trotta, Rosa Liascovich","doi":"10.1007/s12687-024-00714-x","DOIUrl":"10.1007/s12687-024-00714-x","url":null,"abstract":"Congenital anomalies (CA) encompass all morphological or functional alterations originating prenatally and present at birth. The prenatal diagnosis of these anomalies can significantly impact the overall health of the pregnant individual and may influence her decision regarding the continuation of the pregnancy. In contexts where safe pregnancy termination is not guaranteed by the state, it can lead to unsafe procedures with severe consequences. In our research, we analyzed epidemiological information on CA to develop potential indicators of inequity in access to safe abortion prior to the legalization of legal termination of pregnancy in Argentina. We included cases from 13 public hospitals and 9 non-public subsector hospitals, from the period 2013-2020. Two groups of specific CA were selected: 1) CA capable of being prenatally diagnosed, and 2) CA related to vascular disruptive events. 10/18 of the selected CA capable of being prenatally diagnosed had a significantly higher prevalence in public hospitals (anencephaly, encephalocele, spina bifida, microcephaly, hydrocephalus, holoprosencephaly, hydranencephaly, diaphragmatic hernia, gastroschisis, bilateral renal agenesis). Non public hospitals had higher prenatal detection. Birth prevalence of CA related with vascular disruptive events (limb reduction, Moebius syndrome, amniotic band sequence) were significantly higher in public hospitals. These results suggest disparities in access to prenatal diagnosis and safe abortion based on socioeconomic status. There was a significant gap in access to prenatal diagnosis for CA and possibly to safe elective abortion depending on the type of institution (public vs. non-public).","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11411032/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141187056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0