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Objective: This qualitative study explored the lived experience of medical doctors in delivering cervical cancer screening in a city in Iraq. Methods: An applied grounded theory approach explored the reported experiences of doctors in the field. A purposive sample of 12 gynaecologists and one general practitioner (GP) working in two main hospitals participated: Semi-structured interviews took place from June to September 2015. Thematic coding of data was peer reviewed and included participant reading of transcripts and translations from Arabic to English. Theory generation involved synthesis of a prior literature review and interview findings. Results: Gynaecologist and GP experiences showed overwhelming gaps in cervical cancer experience and screening. Iraqi women mainly presented for help with late stage cancer. Practical barriers included cultural stigma, low priority for women’s health needs, lack of knowledgeable leadership and perceived shortage of adequately trained staff. Conclusion: There is an urgent need for culturally appropriate cervical cancer prevention policies and strategies in Iraq, focused on evidence-based population-based cervical screening to identify and prevent advanced cervical cancer among women. Regional educational initiatives should be encouraged and primary health care systems supported to undertake screening. Key words: Cervical cancer, Screening, Health system, Barriers, Iraq, Medical education

This paper details a competency framework to help address the need for structured guidance around genetic and genomic education and training for midwives. A one-day expert panel consensus meeting was convened to review and revise a previously published joint framework for nurses, midwives and health visitors. Fifteen midwives from practice, management, education and policy and three genetic counsellors (two with midwifery backgrounds) attended. An in-depth knowledge of genetics/genomics was not a requirement. Personal narratives covering a range of experiences across the pre- and post-natal periods were used to stimulate discussion and debate. Identified themes were mapped to the original framework to identify gaps and differences. Inclusion of additional themes into the new framework was voted upon. All original competencies were found to be valid but required amendment in order to focus specifically on the role of the midwife and the needs of the mother, child and wider family. Revisions have resulted in a framework that is more directive and which addresses the time-critical nature of information-giving, decision-making, testing and referral that are crucial components of midwifery practice. Learning outcomes and practice indicators offer educators and trainers a means of developing student/staff knowledge and skills over time and with increasing experience.

Infant mental health (IMH) is a growing area of practice for health, education and social care practitioners, as links are increasingly made between experiences in the early years and subsequent child development, mental health and well-being. It is unclear how parents perceive IMH and use knowledge relating to IMH with their children. We conducted a systematic review, the aim of which was to determine parents’ perceptions of IMH and how they utilize this knowledge with their infants. We undertook a search of relevant databases and journals and from an initial list of 4147 potential papers, identified 16 for the review. Original data were extracted and presented in a table, and the content of all papers was analysed thematically and presented in narrative form. Three main themes emerged from the available research: knowledge and understanding of child development, influences of society and culture, and interpretation of emotions and expressions. Our results indicate that research is limited in terms of parental perspectives of IMH and how they obtain and use this knowledge. Further research is needed to investigate this topic to maximize mental well-being in infancy and later life.

Enabling informed choice is an essential component of care when offering young adults presymptomatic testing for a genetic condition. A systematic review on this topic revealed that many young adults grew up with little information regarding their genetic risk and that parents had applied pressure to them during the testing decision-making process. However, none of the studies retrieved were conducted in South European countries. To address this gap, we undertook a qualitative study based on grounded theory to explore the psychosocial implications of presymptomatic testing for hereditary cancer in Italian young adults aged 18–30 years. Interviews were conducted on three occasions: 1 month before counselling, and 2 weeks and 6 months after results. Data were coded and grouped under themes. A total of 42 interviews were conducted. Four themes emerged: knowledge, genetic counselling process, decision making and dealing with test results. Although participants grew up with little or no information about their genetic risk, none expressed regret at having the test at a young age. Pre-test counselling was appreciated as a source of information, rather than support for decision making. Decisions were often made autonomously and sometimes conflicted with parents’ wishes. Participants reported no changes in health behaviours after testing. This evidence highlights the need for a comprehensive, longitudinal counselling process with appropriate timing and setting, which supports ‘parent-to-offspring’ risk communication first and decision making by young adults about presymptomatic testing and risk management afterwards. In conclusion, it is clear that counselling approaches for presymptomatic testing may require modification both for young adults and their parents.

Muenke syndrome constitutes the most common syndromic form of craniosynostosis, occurring in 1 in 30,000 live births. The phenotype is variable, ranging from no clinical findings to complex presentation. Facilitating reproductive decision making for couples at genetic risk of having a child with Muenke syndrome is an important aspect of genetic counselling. Prenatal genetic testing for Muenke syndrome is accurate; however the value of testing is uncertain with a variable phenotype. The purpose of this study was to explore attitudes towards prenatal testing in couples where one partner had tested positive for the Muenke mutation. We used a qualitative approach based on thematic analysis and collected data using individual semi-structured interviews with eight parents. Five key themes were: The Muenke journey; Impact and knowledge of diagnosis; Knowledge and attitude to prenatal testing; Stigma and sharing of information; and Information retention. Knowledge of Muenke syndrome and prenatal testing was poor. Genetic information was provided when treatment of their affected child was their paramount concern. Couples reported not sharing genetic information with family due to fear of stigmatisation. Couples cannot make reproductive decisions if lacking appropriate understanding of the choices: timely genetic counselling regarding prenatal testing is needed when relevant to them.

Aim The aim of this study was to determine and explore the relationship between risk perception and health-protective behaviour in individuals with family history of breast cancer. Background Women with increased risk of breast cancer due to inherited predisposition can use health-protective behaviours to facilitate prevention or early detection of cancer. Data sources Four scientific literature databases (CINAHL, Medline, AMED, PsychInfo) and three systematic review databases were searched. Design Mixed method systematic review. Review methods The systematic review of peer-reviewed literature was conducted following the method described by the Centre of Reviews and Dissemination. Research studies published in English between January 2004–December 2014 focussing on individuals with family history of breast cancer were included. Of 210 papers identified, 10 studies were eligible for inclusion. Studies were assessed for their quality. Due to the diversity of the studies, a three-step analysis was undertaken involving narrative summary of the quantitative data, thematic analysis and presentation of integrated results in narrative form. Results A clear link between breast cancer risk perception and some health-protective behaviour was identified. Screening administered by health professionals (mammogram screening, chemoprevention) were appropriately adopted. However, behaviours requiring high individual input (breast self-examination, lifestyle changes) were not as appropriately adopted and the decision process was not as clearly linked to risk perception. Conclusions There is limited understanding about the complex relationship between risk perception and health-protective behaviour. Risk communication and health promotion need to be further developed to assist individuals to better engage with their actual risk and risk-appropriate behaviours, particularly those that require regular personal effort.

Objectives the objectives of this study were to explore breast feeding peer supporters׳ motivation to volunteer within a hospital environment, to describe their experiences of volunteering within a hospital environment, to examine the relationships between peer supporters and ward staff, and to identify factors contributing to the future sustainability of the service. Design a qualitative study; peer supporters and clinical ward staff were interviewed using a semi-structured schedule and data were analysed using Thematic Analysis with an inductive approach. Setting and participants six peer supporters and ten ward staff, whose role included giving breast feeding support, working on a maternity ward in one consultant-led unit in England that had been hosting breast feeding peer support volunteers for the previous three years. Findings three main themes were identified: 1. What peer supporters brought to the maternity ward; this included providing breast-feeding mothers with confidence, reassurance and empowerment, and spending ‘unhurried time' with mothers; 2. What motivated the peer supporters; this included an interest in midwifery as a future career and a desire to help people; 3. Factors contributing to the sustainability of the service; these included an existing rolling training programme, however recruitment processes were causing long delays and some aspects of operational management needed improvement. Key conclusions individuals with a passion for breast feeding were willing to volunteer as peer supporters and their experience of the activity was positive. Organisational processes did not always provide peer supporters with a positive experience of the organisation and these needed to be improved as they contributed to the future sustainability of the service. Implications for practice the study indicates that a sustainable hospital-based volunteer service for breast feeding peer support requires a rolling training programme for peer supporters, efficient recruitment processes and effective operational management.

The aim of the European Board of Medical Genetics has been to develop and promote academic and professional standards necessary in order to provide competent genetic counselling services. The aim of this study was to explore the impact of the European registration system for genetic nurses and counsellors from the perspectives of those professionals who have registered. Registration system was launched in 2013. A cross-sectional, online survey was used to explore the motivations and experiences of those applying for, and the effect of registration on their career. Fifty-five Genetic Nurses and Counsellors are registered till now, from them, thirty-three agreed to participate on this study. The main motivations for registering were for recognition of their work value and competence (30.3%); due to the absence of a registration system in their own country (15.2%) and the possibility of obtaining a European/international certification (27.3%), while 27.3% of respondents registered to support recognition of the genetic counselling profession. Some participants valued the registration process as an educational activity in its own right, while the majority indicated the greatest impact of the registration process was on their clinical practice. The results confirm that registrants value the opportunity to both confirm their own competence and advance the genetic counselling profession in Europe.

Presymptomatic testing for hereditary cancer syndromes should involve a considered choice. This may be particularly challenging when testing is undertaken in early adulthood. With the aim of exploring the psychosocial implications of presymptomatic testing for hereditary cancer in young adults and their parents, a cross-sectional survey was designed. Two questionnaires were developed (one for young adults who had considered presymptomatic testing, one for parents). Questionnaires were completed by 152 (65.2%) young adults and 42 (73.7%) parents. Data were analysed using descriptive statistics, inferential testing, and exploratory factor analysis and linear regression analysis. Young adults were told about their potential genetic risk at a mean age of 20 years; in most cases, information was given by a parent, often in an unplanned conversation. Although testing requests were usually made by young adults, the majority of parents felt they had control over the young adult’s decision and all felt their children should be tested. Results suggest that some young adults did not understand the implications of the genetic test but complied with parental pressure. Counselling approaches for presymptomatic testing may require modification both for young adults and their parents. Those offering testing need to be aware of the complex pressures that young adults can experience, which can influence their autonomous choices. It is therefore important to emphasise to both parents and young adults that, although testing can bring benefits in terms of surveillance and prevention, young adults have a choice.

The European Board of Medical Genetics: development of a professional registration system in Europe

Women of advanced maternal age have a higher risk of having a child affected by a chromosomal disorder than younger childbearing women and are frequently offered invasive testing during pregnancy. The aim of our systematic review was to identify and analyse the current evidence base regarding factors that influence the uptake of invasive fetal testing by pregnant women of advanced maternal age. We conducted a systematic review. A search of The Cochrane Library, CINAHL, Embase and Medline databases was undertaken for papers published in English and Italian from January 2002 to May 2012. Eleven studies satisfied the inclusion criteria, were subjected to quality assessment and included in the review. We analysed the data using thematic analysis. The factors influencing women were classified as either external or psychosocial factors. External factors included the opportunity for screening, screening results and use of genetic counselling. Psychosocial factors related to ethnicity, socio-demographic status and attendance of partners during counselling. It is difficult to draw firm conclusions as to the principle factors that influence uptake of invasive tests by women of AMA. More research is needed to enhance understanding of relevant factors to ensure that services are offered in a way that acknowledges practical as well as psychosocial influences. This type of research will help to equip midwives and other professionals caring for women during pregnancy to ensure that women are supported to make the choices that are appropriate for them and their families.

the mental health of new mothers is a public health concern as it is likely to have an impact on the mother herself, her close relationships and the behavioural and emotional health of her children. Post-traumatic stress disorder affects some women after childbirth. Objective the aim of this study was to explore how women were affected by the memories of a birth that they perceived as traumatic. Design in this paper the authors report the qualitative analysis of interview data from seven postnatal women reporting symptoms of PTSD. Participants were recruited from a large NHS Trust in the South West of England. Thematic analysis was used to analyse interview data collected from the seven women reporting symptoms of postnatal PTSD. Findings complicating factors such as relationship difficulties and pre-existing health problems appeared to contribute to postnatal post-traumatic stress disorder and some women reported difficulty expressing emotions. The study findings confirm that women value good relationships with midwives during labour. Key conclusions and implications for practice antenatal screening for personality traits such as alexithymia (difficulty expressing emotions) may be useful and midwives should be alert to current life events that may increase women's vulnerability to post-traumatic stress disorder.

Prenatal testing based on cell-free fetal DNA in maternal serum is now possible for specific monogenic conditions, and studies have shown that the use of non-invasive testing is supported by prospective parents and health professionals. However, some ethical issues have been raised concerning informed consent and paternal rights. The objective of this study was to explore ethical aspects of the use of non-invasive prenatal diagnostic testing for autosomal recessive disorders. We used a qualitative cross-sectional design, based on Thematic Analysis, and recruited 27 individuals of reproductive age who were carriers of one of four conditions: thalassaemia, sickle cell disease, cystic fibrosis or spinal muscular atrophy. Data were collected via focus groups or interviews. Participants were aware of the potential for such tests to be viewed as routine and suggested that obtaining written consent and allowing time for consideration is needed to facilitate autonomous choice and informed consent. All participants felt that mothers should be able to request such tests, but fathers who declined carrier testing should be made aware that fetal test results may reveal their status. We suggest that a written record of consent for non-invasive prenatal diagnosis should be used as a standard to help reinforce the serious nature of the test results. Where the father's carrier status could be revealed through fetal testing, he should be made aware of this before the results are available. Health professionals should discuss with the pregnant woman the best way to manage unsought information about the father's carrier status to minimise family disruption.

In Europe, genetic counsellors are employed in specialist genetic centres or other specialist units. According to the European Board of Medical Genetics, the genetic counsellor must fulfil a range of roles, including provision of information and facilitation of psychosocial adjustment of the client to their genetic status and situation. To evaluate the extent to which genetic counsellors fulfil their prescribed roles, we conducted a systematic review of the published relevant scientific evidence. We searched five relevant electronic databases (Medline, CINAHL, SocIndex, AMED and PsychInfo) using relevant search terms and handsearched four subject-specific journals for research-based papers published in English between 1 January 2000 and 30 June 2013. Of 419 potential papers identified initially, seven satisfied the inclusion criteria for the review. Themes derived from the thematic analysis of the data were: (i) rationale for genetic counsellors to provide care, (ii) appropriate roles and responsibilities and (iii) the types of conditions included in the genetic counsellor caseload. The findings of this systematic review indicate that where genetic counsellors are utilised in specialist genetic settings, they undertake a significant workload associated with direct patient care and this appears to be acceptable to patients. With the burden on genetic services, there is an argument for the increased use of genetic counsellors in countries where they are under-utilised. In addition, roles undertaken by genetic counsellors in specialist genetic settings could be adapted to integrate genetic counsellors into multi-disciplinary teams in other specialisms.

Development of a registration system for genetic counsellors and nurses in health-care services in Europe

This is the fifth in a series of articles on genetics. This article focuses on the science that informs health care and explains how genetics (the study of inheritance and variation) and genomics (the study of the structure and function of the genome and its interactions with the environment) relate to health, illness and care provision. This article does not set out to review all of the core concepts in genetics that healthcare professionals should be familiar with, although the authors do refer to a number in the article. The authors consider why it is important to have an understanding of these concepts, how this can make a difference to practice and refer the reader to additional sources of information.

KIRK M., TONKIN E. & SKIRTON H. (2014) An iterative consensus-building approach to revising a genetics/genomics competency framework for nurse education in the UK. Journal of Advanced Nursing 70(2), 405–420. doi: 10.1111/jan.12207 AimTo report a review of a genetics education framework using a consensus approach to agree on a contemporary and comprehensive revised framework. BackgroundAdvances in genomic health care have been significant since the first genetics education framework for nurses was developed in 2003. These, coupled with developments in policy and international efforts to promote nursing competence in genetics, indicated that review was timely. DesignA structured, iterative, primarily qualitative approach, based on a nominal group technique. MethodA meeting convened in 2010 involved stakeholders in UK nursing education, practice and management, including patient representatives (n = 30). A consensus approach was used to solicit participants' views on the individual/family needs identified from real-life stories of people affected by genetic conditions and the nurses' knowledge, skills and attitudes needed to meet those needs. Five groups considered the stories in iterative rounds, reviewing comments from previous groups. Omissions and deficiencies were identified by mapping resulting themes to the original framework. Anonymous voting captured views. Educators at a second meeting developed learning outcomes for the final framework. FindingsDeficiencies in relation to Advocacy, Information management and Ongoing care were identified. All competencies of the original framework were revised, adding an eighth competency to make explicit the need for ongoing care of the individual/family. ConclusionModifications to the framework reflect individual/family needs and are relevant to the nursing role. The approach promoted engagement in a complex issue and provides a framework to guide nurse education in genetics/genomics; however, nursing leadership is crucial to successful implementation.

Advances in genetics are bringing unprecedented opportunities for understanding health and disease, developing new therapies and changes in healthcare practice. Many nurses and midwives lack competence and confidence in integrating genetics into professional practice. One approach to enhance understanding of genetics is to simulate clinical exposure through storytelling. Stories are acknowledged as a powerful learning tool, being understandable and memorable, stimulating critical thinking, and linking theory to practice. Telling Stories, Understanding Real Life Genetics is a freely accessible website that sets people's stories within an education framework. The links between the stories and professional practice are made explicit and additional features support learning and teaching. Care of the storytellers within an ethical framework is of paramount importance. Storytellers are viewed as partners in the project. The challenges encountered include preserving the authentic voice and dignity of the storyteller. Project team members have also experienced ‘professional shame’ when negative experiences have been recounted, and the stories have had an impact on the team. The experience of working with storytellers has been positive. The storytellers want to be heard so that others will benefit from their stories. They serve as a reminder of why this work is important.

Global trends in public health nursing (PHN) suggest the value of community-based social research. However, it is not always clear how social research relationships may be of benefit to PHN or how such skills can best be learned and applied. To advance this understanding, we present a qualitative analysis of the development of social research relationships in PHN. Using a background literature review as a foundation, our qualitative mixed method strategy involved a comparative case-study analysis based on the authors' participant observation in two distinct postnatal group settings. Our findings suggest that participant observation facilitates the advancement of social research relationships through practitioner-research management of role conflict. Reflexivity and reciprocity is an emergent relational process, which relies upon a de-professionalization of the traditional PHN role. Conversely, social research relationships help build PHN capacity for family health needs assessment. Thus, we contend that the application of participant observation enables the development of social research relationships, which advance the practice of PHN in postnatal support settings.

Genetic counselling must be offered in the context of presymptomatic testing (PST) for severe late-onset diseases; however, effective genetic counselling is not well defined, and measurement tools that allow a systematic evaluation of genetic practice are still not available. The aims of this qualitative study were to (1) recognize relevant aspects across the whole process of genetic counselling in PST for late-onset neurodegenerative disorders that might indicate effective practice from the consultand's perspective; and (2) analyse aspects of current protocols of counselling that might be relevant for successful practice. We interviewed 22 consultands undergoing PST for late-onset neurological disorders (Huntington disease, spinocerebellar ataxias and familial amyloid polyneuropathy ATTRV30M) in the three major counselling services for these diseases in Portugal. The main themes emerging from the content analysis were (1) the consultand's general assessment of the PST process in genetic services; (2) appropriateness and adaptation of the protocol to the consultand's personal expectations and needs; and (3) consultand's experience of the decision-making process and the role of engagement and counselling skills of the counsellor. Participants also provided a set of recommendations and constructive criticisms relating to the length of the protocol, the time gap between consultations and the way results were delivered. These issues and the construction of the relationship between counsellor and counselee should be further investigated and used for the improvement of current protocols of counselling.

In March 2005, a group of experts from the European Society of Human Genetics and European Society of Human Reproduction and Embryology met to discuss the interface between genetics and assisted reproductive technology (ART), and published an extended background paper, recommendations and two Editorials. Seven years later, in March 2012, a follow-up interdisciplinary workshop was held, involving representatives of both professional societies, including experts from the European Union Eurogentest2 Coordination Action Project. The main goal of this meeting was to discuss developments at the interface between clinical genetics and ARTs. As more genetic causes of reproductive failure are now recognised and an increasing number of patients undergo testing of their genome before conception, either in regular health care or in the context of direct-to-consumer testing, the need for genetic counselling and preimplantation genetic diagnosis (PGD) may increase. Preimplantation genetic screening (PGS) thus far does not have evidence from randomised clinical trials to substantiate that the technique is both effective and efficient. Whole-genome sequencing may create greater challenges both in the technological and interpretational domains, and requires further reflection about the ethics of genetic testing in ART and PGD/PGS. Diagnostic laboratories should be reporting their results according to internationally accepted accreditation standards (International Standards Organisation - ISO 15189). Further studies are needed in order to address issues related to the impact of ART on epigenetic reprogramming of the early embryo. The legal landscape regarding assisted reproduction is evolving but still remains very heterogeneous and often contradictory. The lack of legal harmonisation and uneven access to infertility treatment and PGD/PGS fosters considerable cross-border reproductive care in Europe and beyond. The aim of this paper is to complement previous publications and provide an update of selected topics that have evolved since 2005. ispartof: European Journal of Human Genetics vol:21 issue:Suppl 2 pages:S1-S21 ispartof: location:England status: published

Background At least 10 % of patients seen in primary care are said to have a condition in which genetics has an influence. However, patients at risk of genetic disease may not be recognised, while those who seek advice may not be referred or managed appropriately. Primary care practitioners lack knowledge of genetics and genetic testing relevant for daily practice and feel inadequate to deliver genetic services. The aim of this systematic review was to evaluate genetics educational interventions in the context of primary care. Methods Following the process for systematic reviews developed by the Centre for Reviews and Dissemination, we conducted a search of five relevant electronic databases. Primary research papers were eligible for inclusion if they included data on outcomes of interventions regarding genetics education for primary care practitioners. The results from each paper were coded and grouped under themes. Results Eleven studies were included in the review. The five major themes identified inductively (post hoc) were: prior experience, changes in confidence, changes in knowledge, changes in practice, satisfaction and feedback. In five of the studies, knowledge of practitioners was improved following the educational programmes, but this tended to be in specific topic areas, while practitioner confidence improved in six studies. However, there was little apparent change to practice. Conclusions There are insufficient studies of relevant quality to inform educational interventions in genetics for primary care practitioners. Educational initiatives should be assessed using changes in practice, as well as in confidence and knowledge, to determine if they are effective in causing significant changes in practice in genetic risk assessment and appropriate management of patients. Electronic supplementary material The online version of this article (doi:10.1186/s12875-016-0483-2) contains supplementary material, which is available to authorized users.

Aims and objectives The aim of the study was to determine the rate of use of prenatal screening tests and the factors affecting the decision to have a prenatal screening test in pregnant women in Turkey. Background Prenatal genetic screening as an optional service is commonly used to determine a level of risk for genetic conditions in the foetus. Design A quantitative cross-sectional survey. Methods Pregnant women (n = 274) who sought prenatal care from one hospital in Turkey were recruited and asked to complete questionnaires that were developed by the researchers. Descriptive and inferential statistics were used to analyse the data. Results Almost half (44·2) % of the women were primiparas, and the majority (97·8%) were in the third trimester of pregnancy. Only 36·1% of the women reported that they had prenatal screening by either the double test or triple test. Women had a low level of knowledge regarding prenatal screening: the mean knowledge score was 3·43 ± 3·21 of a possible score of 10. Having consanguineous marriage, a history of spontaneous abortion, a child with genetic disorder, multiparity or a longer marriage duration were positively correlated with accepting a prenatal screening test. Conclusions This study has provided baseline data on the uptake and reasons for accepting or declining a prenatal screening in a cohort of Turkish women. There is evidence to suggest that more education is needed to improve knowledge and provide comprehensive nursing care to promote informed consent in this context. Relevance to clinical practice Perinatal nurses are ideally situated to inform pregnant women about prenatal screening tests to improve access to healthcare services and to ensure informed decisions are made by pregnant women and their partners.

Presymptomatic and predictive genetic testing should involve a considered choice, which is particularly true when testing is undertaken in early adulthood. Young adults are at a key life stage as they may be developing a career, forming partnerships and potentially becoming parents: presymptomatic testing may affect many facets of their future lives. The aim of this integrative systematic review was to assess factors that influence young adults' or adolescents' choices to have a presymptomatic genetic test and the emotional impact of those choices. Peer-reviewed papers published between January 1993 and December 2014 were searched using eight databases. Of 3373 studies identified, 29 were reviewed in full text: 11 met the inclusion criteria. Thematic analysis was used to identify five major themes: period befeore testing, experience of genetic counselling, parental involvement in decision-making, impact of test result communication, and living with genetic risk. Many participants grew up with little or no information concerning their genetic risk. The experience of genetic counselling was either reported as an opportunity for discussing problems or associated with feelings of disempowerment. Emotional outcomes of disclosure did not directly correlate with test results: some mutation carriers were relieved to know their status, however, the knowledge they may have passed on the mutation to their children was a common concern. Parents appeared to have exerted pressure on their children during the decision-making process about testing and risk reduction surgery. Health professionals should take into account all these issues to effectively assist young adults in making decisions about presymptomatic genetic testing.

Aim This article is a report of a study of informed consent in people with a learning disability. The aims of the study were to explore the information needs of people with mild-to-moderate learning disabilities with respect to consent for blood tests and to identify ways of facilitating informed consent. Background The recent political agenda for social change in the UK has emphasized the right of people with a learning disability to have more autonomy and make their own decisions. As in other countries, there has also been a shift towards shared decision-making in healthcare practice. Design Qualitative study using an ethnographic approach. Methods An ethnographic approach was used for this qualitative study. Phase 1 involved observation of six participants with a learning disability having a routine blood test in general practice, followed by semi-structured interviews with 14 participants with a learning disability in Phase 2. Data were collected between February 2009–February 2010. Findings The data showed that consent procedures were often inadequate and provision of information to patients prior to a blood test was variable. People with a learning disability expressed clearly their information requirements when having a routine blood test; this included not wanting any information in some cases. Conclusions Healthcare practitioners and people with a learning disability need to be familiar with current consent law in their own country to facilitate valid consent in the healthcare context. This study demonstrated the value of qualitative research in exploring the knowledge and attitudes of people with learning disability.

Incidental findings arise when clinically relevant genetic information about a research participant or patient is identified outside the scope of the original research objective or diagnostic test being performed. These findings can relate to carrier status for a heritable condition, misattributed paternity or increased susceptibility to a medical condition. The decision whether to disclose these findings to the research subject or patient is underpinned by many ethical, moral, and potentially legal considerations. There is an urgent need for definitive guidelines for researchers and healthcare professionals. We performed a systematic review of the relevant literature concerning the disclosure of incidental findings, based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses recommendations, using the prescribed flowchart and checklist. At initial screening, 473 articles were retrieved. The inclusion and exclusion criteria aimed at obtaining data that were relevant and of sufficient quality were applied and a total of four relevant studies were identified, comprising 2,680 individual participants and 1,023 guidance documents. Major themes emerging from the included articles include patient autonomy, patient welfare, harmful secrets, and genetic literacy. The lack of relevant studies emphasizes the urgent need for empirical investigations into the disclosure or non-disclosure of genetic incidental findings, and the provision of guidelines to assist healthcare professionals and researchers. © 2012 Wiley Periodicals, Inc.

Prenatal fetal sex determination is clinically indicated for women who are at risk of having a child with a serious genetic disorder affecting a particular sex. Ultrasound has been the traditional method used, but early fetal sex determination using non-invasive prenatal diagnosis (NIPD) can now be performed using cell-free fetal DNA in maternal plasma. The study aim was to assess the views and experiences of service users who had used NIPD for fetal sex determination. In this paper, we report on the perceived benefits and disadvantages. A qualitative approach using semi-structured interviews was used. A total of 44 participants (38 women and 6 partners of participating women) were recruited. Participants' views and experiences of NIPD were overwhelmingly positive. Concerning benefits over traditional methods, three themes emerged: (1) technical aspects of technology; (2) timing; and (3) enhanced decision-making. Practical advantages of NIPD included avoiding miscarriage, and there were a number of psychological advantages associated with timing such as perceived control, early re-engagement, normalization of pregnancy and peace of mind. Participants also valued NIPD as it enabled a stepwise approach to decision-making. A number of disadvantages were discussed including concerns about social sexing and increased bonding at a time in pregnancy when miscarriage risk is high. However, participants felt these were fairly minor in comparison with the advantages of NIPD. Until definitive genetic diagnosis using NIPD is available, NIPD for fetal sex determination is perceived as a good interim measure with a number of notable advantages over traditional methods.

Genetic advances mean patients at risk of genetic conditions can be helped through testing, clinical screening, and preventive treatment, but they must first be identified to benefit. Ensuring quality of genetic care for patients requires genetic expertise in all health services, including primary care. To address an educational shortfall, a series of e-learning resources was developed in six languages to equip primary care professionals with genetic skills relevant for practice. The purpose of the study was to evaluate these resources using Kirkpatrick's framework for educational outcomes.Mixed methods (qualitative and quantitative) were used over four phases of the study.A high level of satisfaction with the resources was reported. Knowledge and skills improved significantly after using the education material. Participants reported changes in confidence and practice behavior, including family history taking, seeking advice from specialists and referring patients. The resources helped users to learn how to explain genetics. Many visited the resources repeatedly and some used them to educate colleagues or students.Gen-Equip modules are effective in improving genetic knowledge, skills, and attitudes for primary care professionals. They provide both continuing professional development and just-in-time learning for a potentially large global audience at a practical level.

To assess pregnant women's knowledge and understanding of first trimester prenatal screening (nuchal translucency, maternal serum free beta-human chorionic gonadotrophin and pregnancy-associated plasma-protein-A), to evaluate the impact of a new information booklet and investigate the effects of education and experiential knowledge of congenital disabilities on the perceived likelihood of accepting prenatal screening.A quasi-experimental quantitative study with a self-completion questionnaire.Five different maternity care clinics in Iceland.Expectant mothers in first trimester of pregnancy (n = 379).Expectant mothers were divided into two groups, an intervention and a control group, both receiving traditional care and information. The intervention group additionally received an information booklet about prenatal screening and diagnosis.Women's knowledge score of prenatal screening. The correlation between education, knowledge score, experiential knowledge of congenital disabilities, and the likelihood of accepting prenatal screening.More than half of the women (57%) believed they received sufficient information to make an informed decision about screening. Knowledge scores were significantly higher for the intervention group (with mean 4.8 compared with 3.7 on a 0-8 scale, p0.0001). Those with higher scores were more likely to accept screening (p0.0001). Women with experiential knowledge of congenital anomalies in their own families were more likely to accept prenatal screening (p = 0.017).Various factors, e.g. experiential knowledge, education and information about prenatal screening affect the likelihood of participation in prenatal screening programs. More information results in better knowledge and higher uptake rate.

Objective childbearing is a significant transition, especially for first-time mothers. The objectives of this study were to explore the maternal transition from womens' perspectives and to identify any unmet needs for support. Design grounded theory was chosen as the most appropriate method of analysis due to its ability to identify social processes in an inductive way. Semi-structured interviews were used to collect data from the participants, and the interview transcripts were analysed using the constant comparative method. Setting communities within one region of the UK. Participants 13 women (aged ⩾16 years) who had delivered their first child six to 15 weeks prior to the interview were recruited to the study. Findings three main themes (control, support and forming a family) all contributed to the core category: ‘changes in the woman's self-concept'. Women felt that they had lost some control over their lives in the early stages of pregnancy and after the birth. The early changes in their self-image and the shift in focus from themselves to the needs of the fetus indicate that the transition may begin at a very early stage in the first trimester. The unfamiliar territory of pregnancy and early motherhood created a need for a mentor or mentors to help guide them through the transition, and to ‘normalise' their feelings and experiences. Finally, the women recognised that the act of childbearing fundamentally transformed them and their partners from individuals or a couple into founding members of a new family. Key conclusions first-time mothers start to undergo a transition at an early stage in their pregnancy. They face difficult periods both early in the pregnancy and after the birth, and have unmet needs for support in those periods, particularly the support of other new mothers. Implications for practice providing more information about early pregnancy before conception may enable women to form more accurate expectations of this period. Facilitating contact between pregnant mothers would help them to establish a more appropriate support network prior to the birth.

This paper is a report of a study conducted to examine the emotional experience of caregiving by family carers of people with Huntington disease and to describe strategies they used to deal with that experience.Huntington disease, commonly diagnosed in young to middle adulthood, is an inherited single gene disorder involving loss of cognitive, motor and neuropsychiatric function. Many family members become caregivers as well as continuing as parents and wage earners. The emotional aspects of caregiving contribute to mental health risks for family members.Focus groups were conducted with 42 adult carers of people with Huntington disease in four United States and two Canadian Huntington disease centers between 2001 and 2005. Data were analyzed through descriptive coding and thematic analysis.All participants reported multiple aspects of emotional distress. Being a carer was described as experiencing disintegration of one's life. Carers attempted to cope by seeking comfort from selected family members, anticipating the time when the care recipient had died and/or using prescription medications. Spousal carers were distressed by the loss of their relationship with their spouse and dealt with this by no longer regarding the person as an intimate partner. Carers were concerned about the disease risk for children in their families and hoped for a cure.Emotional distress can compromise the well-being of family carers, who attempt to maintain multiple roles. Nurses should monitor carer mental health, identify sources of emotional distress and support effective strategies used by carers to mediate distress.

Title. Educational gaming in the health sciences: systematic review. Aim. This paper is a report of a review to investigate the use of games to support classroom learning in the health sciences. Background. One aim of education in the health sciences is to enable learners to develop professional competence. Students have a range of learning styles and innovative teaching strategies assist in creating a dynamic learning environment. New attitudes towards experiential learning methods have contributed to the expansion of gaming as a strategy. Data sources. A search for studies published between January 1980 and June 2008 was undertaken, using appropriate search terms. The databases searched were: British Education Index, British Nursing Index, The Cochrane Library, CINAHLPlus, Medline, PubMed, ERIC, PsychInfo and Australian Education Index. Methods. All publications and theses identified through the search were assessed for relevance. Sixteen papers reporting empirical studies or reviews that involved comparison of gaming with didactic methods were included. Results. The limited research available indicates that, while both traditional didactic methods and gaming have been successful in increasing student knowledge, neither method is clearly more helpful to students. The use of games generally enhances student enjoyment and may improve long-term retention of information. Conclusion. While the use of games can be viewed as a viable teaching strategy, care should be exercised in the use of specific games that have not been assessed objectively. Further research on the use of gaming is needed to enable educators to gaming techniques appropriately for the benefit of students and, ultimately, patients.

Title. Informed consent to healthcare interventions in people with learning disabilities – an integrative review. Aim. This paper is a report of an integrative review of informed consent to healthcare interventions in people with learning disabilities. Background. Consent to treatment lies at the heart of the relationship between patient and healthcare professional. In order for people with learning disabilities to have equity of access to health care, they need to be able to give informed consent to health interventions – or be assessed as incompetent to give consent. Data sources. The British Nursing Index (BNI), CINAHL, MEDLINE, Social Care Online, ERIC and ASSIA and PsycINFO databases were searched using the search terms: Consent or informed choice or capacity or consent to treat* or consent to examin* AND Learning disab* or intellectual* disab* or mental* retard* or learning difficult* or mental* handicap*. The search was limited to papers published in English from January 1990 to March 2007. Review methods. An integrative review was conducted and the data analysed thematically. Results. Twenty-two studies were reviewed. The main themes identified were: life experience, interaction between healthcare professionals and participants, ability to consent, and psychometric variables. A consensus seemed to emerge that capacity to consent is greater in people with higher cognitive ability and verbal skills, but that the attitudes and behaviour of healthcare professionals was also a crucial factor. Conclusion. The findings support use of the functional approach to assessing mental capacity for the purpose of obtaining informed consent. Future research into informed consent in people with learning disabilities is needed using real life situations rather than hypothetical vignettes.

Background prenatal screening for fetal abnormality is being offered routinely in many countries. The need for informed consent demands that the nature of screening is understood by prospective parents, but the opportunities for providing information early in pregnancy before decision-making may be limited. Objective to assess the knowledge about, and attitudes to, prenatal screening in adults of reproductive age in two countries. Design two groups of adults were surveyed using a specifically designed tool to assess knowledge about fetal abnormalities and potential screening tests, attitudes to screening and termination of pregnancy, and information required by parents before making decisions. Setting and participants 90 participants were surveyed in Japan, 72% of whom were pregnant or had a partner who was pregnant; 93 participants were surveyed in the UK, none of whom were pregnant. All respondents were aged between 18 and 45 years. Measurements demographic data were collected and analysed. Frequencies were calculated for each questionnaire response. A series of t -tests and χ 2 tests were used to assess differences between the two groups. Free-text data were analysed using content analysis. Findings overall knowledge of prenatal tests and the conditions for which screening is offered was low in both groups. Significant differences exist between the perception of the conditions for which screening or testing can be offered and the types of conditions that can actually be detected prenatally. Most respondents in both countries would consider termination of pregnancy for fetal abnormality. The information most frequently cited by respondents as important when deciding about testing were the chances of damage to the health of fetus, mother, or both. Key conclusions women and men of reproductive age in the groups studied are not well-prepared to make decisions about screening or testing in pregnancy. Implications for practice improvements in preconceptual education on prenatal screening and testing may be required to ensure prospective parents can make informed decisions in early pregnancy.

Aim. The aim of this research was to identify the needs and coping strategies of individuals with Huntington disease and their family members/carers and to ascertain the extent to which they were supported by the type of specialised service provided in this unit. Background. The duration of the illness may be up to 30 years and there are far reaching implications for the affected person, family members and carers. Services for families need to provide expert psychological and practical support, whilst remaining planned and flexible. The aim of this research was to identify needs and coping strategies of individuals with Huntington disease and their carers and ascertain the extent to which they were supported by a specialised community service. Methods. Five focus groups and three individual interviews were used to gather data from affected individuals, family, carers and staff of the unit (n = 33). A semi-structured discussion guide was used in every case. Data were analysed using an inductive coding technique. Results. Three main themes emerged; (i) Transitions and the journey, (ii) Challenges in finding and providing support and (iii) The role of the unit in providing supportive care. While the service was seen as supportive, the need for flexibility was emphasised to facilitate the transition from unaffected to affected status. Affected individuals felt it was important to be known as the person they had been, despite the changes due to the disease. Conclusions. Provision of service in a dedicated unit is an appropriate way to support affected patients and their carers. Enhancing understanding of the disease and allowing the individual to make choices can assist coping with this challenging disease. Relevance to clinical practice. It is helpful to allow patients control over timing and frequency of contact with professionals. Improving understanding of the condition in the public and health professionals may enable patients to access a greater range of social activities.

Aim This study explored young people's perceptions of their involvement in healthcare decisions affecting their management of care. Method A phenomenological approach was used to allow in-depth examination of the young people's personal accounts of their experiences. Data were obtained from 10 hospitalised young people between the ages of 12-16 years from both genders and from different medical and surgical specialities using focused interviews. Transcribing, reading and listening to the data enabled data analysis through reflection and analysis. Findings Three themes were identified: level of involvement in decision-making; psychological impact of involvement in decision making; and communication. Conclusion Professional practice in the care of young people should include effective communication, a policy of inclusion and active assessment of competence.

Aims and objectives The aim of this discussion paper is to enable nurses to understand how deoxyribonucleic acid analysis can be predictive for some diseases and not predictive for others. This will facilitate nurses to interpret genomic test results and explain them to patients. Background Advances in technology mean that genetic testing is now commonly performed by sequencing the majority of an individual's genome or exome. This results in a huge amount of data, some of which can be used to predict or diagnose disease. Design This is a discussion paper. Methods This paper emerged from multiple discussions between the three authors over many months, culminating in a writing workshop to prepare this text. Results The results of DNA analysis can be used to diagnose or predict rare diseases that are caused by a mutation in a single gene. However, while there are a number of genetic factors that contribute to common diseases, the ability to predict whether an individual will develop that condition is limited by the overall heritability of the condition. Environmental factors (such as lifestyle) are likely to be more useful in predicting common disease than genomic testing. Genomic tests may be of use to inform management of diseases in specific situations. Conclusions Genomic testing will be of use in diagnosing disorders due to single gene mutations, but the use of genomic testing to predict the chance of a patient being affected in the future by a common disease is unlikely to be a realistic option within a health service setting. Relevance to clinical practice Nurses will increasingly be involved in the use of genomic tests in mainstream patient care. However, they need to understand and be able to explain to patients the practical applications of and limitations of such tests.

Genetic testing is becoming more commonplace in general and specialist health care and should always be accompanied by genetic counselling, according to Swedish law. Genetic counsellors are members of the multi-disciplinary team providing genetic counselling. This study examined the role and added value of genetic counsellors in Sweden, using a cross-sectional on-line survey. The findings showed that the genetic counsellors added value in the clinical setting by acting as the 'spider-in-the-web' regarding case management, having a more holistic, ethical and psychological perspective, being able to offer continuous support and build a relationship with the patient, and being more accessible than medical geneticists. The main difference between a genetic counsellor and medical geneticist was that the doctor had the main medical responsibility. Thus genetic counsellors in Sweden contribute substantially to the care of patients in the clinical genetic setting.

The development of non-invasive prenatal testing has increased accessibility of fetal testing. Companies are now advertising prenatal testing for aneuploidy via the Internet.The aim of this systematic review of websites advertising non-invasive prenatal testing for aneuploidy was to explore the nature of the information being provided to potential users.We systematically searched two Internet search engines for relevant websites using the following terms: 'prenatal test', 'antenatal test', 'non-invasive test', 'noninvasive test', 'cell-free fetal DNA', 'cffDNA', 'Down syndrome test' or 'trisomy test'. We examined the first 200 websites identified through each search. Relevant web-based text was examined, and key topics were identified, tabulated and counted. To analyse the text further, we used thematic analysis.Forty websites were identified. Whilst a number of sites provided balanced, accurate information, in the majority supporting evidence was not provided to underpin the information and there was inadequate information on the need for an invasive test to definitely diagnose aneuploidy.The information provided on many websites does not comply with professional recommendations. Guidelines are needed to ensure that companies offering prenatal testing via the Internet provide accurate and comprehensible information.

This paper reports the development of specialist genetic nursing in the UK and Japan. Between 1970 and 1990, significant technical advances in genetic testing occurred. These advances offered many families affected by genetic conditions more choices in diagnostic, predictive, and prenatal testing. It was recognized that genetic testing could significantly alter the life of the family and that supportive health services were required to accompany such testing. Nurses began to offer specialist services in this setting, but considerable professional development was required to ensure practitioners were competent. In the UK, the profession grew slowly over several decades. Concern to establish minimum standards of practice in this new professional setting culminated in the establishment of a set of competencies and a formal registration process. By comparison, in Japan, developments in genetic nursing have occurred over a shorter period of time, but minimum standards of competence already have been agreed upon.

Aim. This paper is a report of a project to introduce and evaluate methods for using information and communication technologies to involve academic staff, students, and patients in a common synchronous e-learning environment. Background. Although there is no strong evidence for this, there may be benefits in ‘efficiency’ and for patients and students from shared e-learning. Asynchronous e-learning methods in nursing education are well-established, but synchronous methods have received less attention. However, if feasible, because they are more akin to face-to-face contact, they may be more suitable for patients and may provide a quicker development path for e-learning. Method. We evaluated three synchronous technologies: (1) non-commercial satellite interactive television (TV); (2) Internet videoconferencing; and (3) webcasting, through feasibility studies of ‘TV-style’ panel discussions on health topics and seminars with interaction with viewers by e-mail, inter-site research meetings with face-to-face interaction, user surveys and literature reviews. Results. Interactive satellite TV required the booking of rooms with specialized receiving equipment. This limited accessibility contributed to the high cost per participant. Videoconferencing proved acceptable for cross-site research meetings and is proposed for joint meetings for doctoral students with overseas centres but has the same access issues as interactive satellite TV. Webcasting is accessible to most users with Internet access and provides a feasible means of delivery of synchronous interactive material. Reported live webcasts have had audiences of thousands. Presentation formats: panel discussions with mixed patient–professional membership and mixed patient–professional audiences were acceptable to participants but engaging academic staff and students was problematic. This may be overcome with webcasting but there may still be barriers such as timetabling and students’ concerns about learning in the same ‘live’ environment as patients. Conclusions. Limitations in accessibility have been demonstrated for both satellite broadcasts and videoconferencing. Webcasting proved the most acceptable way of supporting a common synchronous environment. Having identified a feasible synchronous method we can now investigate hypothesized benefits for staff, students, and patients of combined e-health e-learning.

Purpose: Analyze ethics, public policy, and education issues that arise in the United States (US) and the United Kingdom (UK) when genomic information acquired as a result of genetic testing is introduced into healthcare services. Organizing Construct: Priorities in the Ethical, Legal, and Social Issues Research Program include privacy, integration of genetic services into clinical health care, and educational preparation of the nursing workforce. These constructs are used to examine health policies in the US and UK, and professional interactions of individuals and families with healthcare providers. Findings: Individual, family, and societal goals may conflict with current healthcare practices and policies when genetic testing is done. Current health policies do not fully address these concerns. Unresolved issues include protection of privacy of individuals while considering genetic information needs of family members, determination of appropriate monitoring of genetic tests, addressing genetic healthcare discrepancies, and assuring appropriate nursing workforce preparation. Conclusions: Introduction of genetic testing into health care requires that providers are knowledgeable regarding ethical, policy, and practice issues in order to minimize risk for harm, protect the rights of individuals and families, and consider societal context in the management of genetic test results. Understanding of these issues is a component of genetic nursing competency that must be addressed at all levels of nursing education.

This article, the last in this series, focuses on the ways a nurse can acquire relevant genetic information for effective practice and how this information can be communicated successfully.

Purpose:To review international efforts to incorporate genetics content into nursing education curricula. Organizing Framework:A discussion of the progress in nursing education programs in selected countries to educate students for genomics-based health care. Information is based on review of the literature and curriculum change efforts by the authors. Conclusions:The lack of agreed-upon minimum competencies impedes efforts to educate nurses for genomics-based health care. Nationally and internationally recognized documents are useful for collaborative efforts to establish minimal competencies in knowledge, skills, and attitudes for nurses with basic and advanced education. Curriculum change that incorporates minimum competencies will require nursing faculty to improve their knowledge base in genomics-based health care. Partnerships among nurses in different countries are needed for successful genomics education programs for faculty.

Rapid growth in demand and altered professional roles have produced changes in the delivery of genetic services over the past decade, but these have not been rigorously evaluated because of the paucity of appropriate audit tools. The aim of this study was to use clients' accounts and factor analysis to develop a robust assessment and audit tool. Qualitative data abstracted from several published studies were used to generate a number of statements related to outcomes of genetic services. A total of 57 statements were incorporated into a questionnaire. The questionnaire was mailed to clients of the Wales genetic service (n = 133) who had completed their episode of care. Respondents were asked to rank each statement on a seven-point Likert type scale. Responses were subjected to factor analysis. A total of 97 anonymized responses were received (73% response rate). Six main factors were found to contribute to the outcome of the service from the client's perspective. These were labeled (i) enhanced understanding, (ii) positive psychological change, (iii) respect for autonomy, (iv) adaptation, (v) disequilibirium, and (vi) value of contact. The audit tool has now been refined for use in evaluating genetic services. Questions are included to investigate the six outcome areas shown to be relevant from the client's perspective. Data from the next phase of the study will be analyzed to validate the tool for use in both clinical audit and research contexts.

Genetic counselling for presymptomatic testing is complex, bringing both ethical and practical questions. There are protocols for counselling but a scarcity of literature regarding quality assessment of such counselling practice. Generic quality assessment tools for genetic services are not specific to presymptomatic testing (PST). Therefore, the aim of this study was to identify aspects of effective counselling practice in PST for late-onset neurological disorders. We used the Delphi method to ascertain the views of relevant European experts in genetic counselling practice, ascertained via published literature and nomination by practitioners. Ethical approval was obtained. Questionnaires were sent electronically to a list of 45 experts, (Medical Doctors, Geneticists, Genetic Counsellors and Genetic Nurses), who each contributed to one to three rounds. In the first round, we provided a list of relevant indicators of quality of practice from a literature review. Experts were requested to evaluate topics in four domains: (a) professional standards; (b) service standards; (c) the consultant's perspective; and (d) protocol standards. We then removed items receiving less than 65% approval and added new issues suggested by experts. The second round was performed for the refinement of issues and the last round was aimed at achieving final consensus on high-standard indicators of quality, for inclusion in the assessment tool. The most relevant indicators were related to (1) consultant-centred practice and (2) advanced counselling and interpersonal skills of professionals. Defined high-standard indicators can be used for the development of a new tool for quality assessment of PST counselling practice.

Summary Background Nurses now require a basic knowledge of genetics to provide patient care in a range of settings. Objectives To determine Turkish registered nurses' current knowledge and educational needs in relation to genetics. Design A descriptive, cross-sectional study. Settings Turkish registered nurses working in a university hospital in Turkey were recruited. Participants All registered nurses were invited to participate and 175 completed the study. Methods The survey instrument, basic knowledge of health genetics, confidence in knowledge and the nurses' need for genetics education were used to collect data. Results The majority (81.1%, n =142) of participants indicated that genetics was not taught during their degree program, although 53.1% to 96% of respondents felt confident in defining different genetic concepts. The average genetics knowledge score was 6.89±1.99 of a possible 11 (range 0–11). The majority (70.3%) expressed a strong wish to attend a continuing nursing education program in genetics. Conclusions The study shows that although Turkish nurses are not sufficiently knowledgeable to apply genetics in practice, they are willing to have more education to support their care of patients. Nurses need to have more education related to genetics in accordance with advances in human genetics to optimize health care.

The number of pregnant women of advanced maternal age has increased worldwide. Women in this group have an increased chance of fetal abnormality. To explore Japanese women's experiences regarding maternal age-specific risks and prenatal testing, we conducted a descriptive qualitative study. Semi-structured interviews were conducted with 16 women aged 35 years or over who had given birth within the previous three months to a healthy, term infant. Thematic analysis of transcribed interview data was performed and three major themes were identified: inadequate understanding of genetic risks; insufficiently informed choice regarding prenatal testing; and need for more information from health professionals. Some participants were not aware of maternal age-specific risks to the fetus. Many took their cues from health professionals and did not raise the topic themselves, but would have considered prenatal testing if made aware of the risks. Nurses, midwives and other health professionals need to adequately inform pregnant women about the genetic risks to the fetus and offer testing at an appropriate stage early in the pregnancy.

Prenatal screening tests can help to estimate the possibility of a pregnant woman having a baby with trisomy 21 (Down syndrome). As these tests are optional, it is essential that women are provided with appropriate verbal and written information to enable them to make an informed choice. In this study, we assessed the content and quality of Down syndrome screening information leaflets used by health professionals to provide information to pregnant women in the UK (26 leaflets) and Thailand (11 leaflets). We collected leaflets from health institutions and the Internet, and compared the topics covered in each one against recommendations for patient information on this topic. We also assessed the quality of each leaflet using the DISCERN Genetics tool. While the quality-rating score of the UK leaflets was significantly higher than the Thai leaflets, none of the leaflets included all the recommended topics; some contained erroneous material. In both countries, the quality of information can be improved to provide accurate information to women and their partners, which is essential to ensure prospective parents can make informed choices during pregnancy.