uu.seUppsala University Publications
Change search
Refine search result
1 - 14 of 14
CiteExportLink to result list
Permanent link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Rows per page
  • 5
  • 10
  • 20
  • 50
  • 100
  • 250
Sort
  • Standard (Relevance)
  • Author A-Ö
  • Author Ö-A
  • Title A-Ö
  • Title Ö-A
  • Publication type A-Ö
  • Publication type Ö-A
  • Issued (Oldest first)
  • Issued (Newest first)
  • Created (Oldest first)
  • Created (Newest first)
  • Last updated (Oldest first)
  • Last updated (Newest first)
  • Disputation date (earliest first)
  • Disputation date (latest first)
  • Standard (Relevance)
  • Author A-Ö
  • Author Ö-A
  • Title A-Ö
  • Title Ö-A
  • Publication type A-Ö
  • Publication type Ö-A
  • Issued (Oldest first)
  • Issued (Newest first)
  • Created (Oldest first)
  • Created (Newest first)
  • Last updated (Oldest first)
  • Last updated (Newest first)
  • Disputation date (earliest first)
  • Disputation date (latest first)
Select
The maximal number of hits you can export is 250. When you want to export more records please use the Create feeds function.
  • 1.
    Abacan, MaryAnn
    et al.
    Univ Philippines Manila, Inst Human Genet, NIH, Manila, Philippines.
    Alsubaie, Lamia
    KASCH, King Abdulaziz Med City, Riyadh, Saudi Arabia.
    Barlow-Stewart, Kristine
    Univ Sydney, Fac Med & Hlth, Northern Clin Sch, Sydney, NSW, Australia.
    Caanen, Beppy
    Maastricht Univ, Dept Clin Genet, Med Ctr, Maastricht, Netherlands.
    Cordier, Christophe
    SYNLAB Genet, Dept Genet, Lausanne, Switzerland.
    Courtney, Eliza
    Natl Canc Ctr, Div Med Oncol, Canc Genet Serv, Singapore, Singapore.
    Davoine, Emeline
    Lausanne Univ Hosp CHUV, Lausanne, Switzerland.
    Edwards, Janice
    Univ South Carolina, Genet Counseling Program, Transnat Alliance Genet Counseling, Columbia, SC USA.
    Elackatt, Niby J.
    Cloudnine Hosp, Org Rare Dis India, Bangalore, Karnataka, India.
    Gardiner, Kate
    LifeLabs Genet, Toronto, ON, Canada.
    Guan, Yue
    Emory Univ, Rollins Sch Publ Hlth, Atlanta, GA USA.
    Huang, Lian-Hua
    China Med Univ, Sch Nursing, Taichung, Taiwan;Natl Taiwan Univ, Coll Med, Sch Nursing, Taipei, Taiwan.
    Ingvoldstad, Charlotta
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Lifestyle and rehabilitation in long term illness. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health. Karolinska Univ Hosp, Ctr Fetal Med & Clin Genet, Stockholm, Sweden;Karolinska Inst, Dept Clin Sci Intervent & Technol, Stockholm, Sweden.
    Kejriwal, Sahil
    Univ Washington, Inst Publ Hlth Genet, Seattle, WA USA.
    Kim, Hyon J.
    Ajou Univ, Med Sch, Suwon, South Korea;Konyang Univ, Grad Sch, Suwon, South Korea.
    Lambert, Deborah
    Natl Rare Dis Off, Dublin, Ireland.
    Lantigua-Cruz, Paulina Araceli
    Univ Med Sci Havana, Havana, Cuba.
    Lee, Juliana M. H.
    Natl Univ Malaysia, Kuala Lumpur, Malaysia.
    Lodahl, Marianne
    Copenhagen Univ Hosp, Rigshosp, Dept Clin Genet, Copenhagen, Denmark.
    Lunde, Ashild
    Univ Bergen, Dept Global Publ Hlth & Primary Care, Bergen, Norway.
    Macaulay, Shelley
    Univ Witwatersrand, Fac Hlth Sci, Div Human Genet, Johannesburg, South Africa;Natl Hlth Lab Serv, Johannesburg, South Africa.
    Macciocca, Ivan
    Victorian Clin Genet Serv, Melbourne, Vic, Australia.
    Margarit, Sonia
    Clin Alemana Univ Desarrollo, Fac Med, Ctr Genet & Genom, Santiago, Chile.
    Middleton, Anna
    Soc & Eth Res Connecting Sci, Wellcome Genome Campus, Cambridge, England;Univ Cambridge, Fac Educ, Cambridge, England.
    Moldovan, Ramona
    Babes Bolyai Univ, Dept Psychol, Cluj Napoca, Romania.
    Ngeow, Joanne
    Natl Canc Ctr, Div Med Oncol, Canc Genet Serv, Singapore, Singapore.
    Obregon-Tito, Alexandra J.
    Univ Arkansas Med Sci, Little Rock, AR 72205 USA.
    Ormond, Kelly E.
    Stanford Univ, Sch Med, Dept Genet, Stanford, CA USA;Stanford Univ, Sch Med, Stanford Ctr Biomed Eth, Stanford, CA USA;Stanford Univ, Sch Med, 300 Pasteur Dr,MC 5208, Stanford, CA USA.
    Paneque, Milena
    Univ Porto, CGPP Ctr Predict & Prevent Genet, I3S, Porto, Portugal;Univ Porto, IBMC Inst Mol & Cell Biol, Porto, Portugal.
    Powell, Karen
    Cone Hlth Canc Ctr, Greensboro, NC USA.
    Sanghavi, Kunal
    Jackson Lab Genom Med, Farmington, CT USA.
    Scotcher, Diana
    Manchester Univ Hosp NHS Fdn Trust, St Marys Hosp, Manchester Ctr Genom Med, Manchester, Lancs, England.
    Scott, Jenna
    Univ British Columbia, Vancouver, BC, Canada.
    Juhe, Clara Serra
    Univ Pompeu Fabra, Dept Ciencies Expt & Salut, Inst Hosp Mar Invest Med, Ctr Invest Biomed Red Enfermedades Raras, Barcelona, Spain.
    Shkedi-Rafid, Shiri
    Hadassah Hebrew Univ, Med Ctr, Jerusalem, Israel.
    Wessels, Tina-Marie
    Univ Cape Town, Div Human Genet, Cape Town, South Africa.
    Yoon, Sook-Yee
    Natl Univ Malaysia, Kuala Lumpur, Malaysia;Canc Res, Subang Jaya, Malaysia;Univ Malaya, Med Ctr, Kuala Lumpur, Malaysia.
    Wicklund, Catherine
    Northwestern Univ, Feinberg Sch Med, Chicago, IL 60611 USA.
    The Global State of the Genetic Counseling Profession2019In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 27, no 2, p. 183-197Article, review/survey (Refereed)
    Abstract [en]

    The profession of genetic counseling (also called genetic counselling in many countries) began nearly 50 years ago in the United States, and has grown internationally in the past 30 years. While there have been many papers describing the profession of genetic counseling in individual countries or regions, data remains incomplete and has been published in diverse journals with limited access. As a result of the 2016 Transnational Alliance of Genetic Counseling (TAGC) conference in Barcelona, Spain, and the 2017 World Congress of Genetic Counselling in the UK, we endeavor to describe as fully as possible the global state of genetic counseling as a profession. We estimate that in 2018 there are nearly 7000 genetic counselors with the profession established or developing in no less than 28 countries.

  • 2.
    Hartwig, Tanja Schlaikjaer
    et al.
    Copenhagen Univ Hosp Hvidovre, Dept Obstet & Gynecol, Fetal Med Unit, Kettegaard Alle 30, DK-2650 Hvidovre, Denmark.
    Miltoft, Caroline Borregaard
    Rigshosp, Copenhagen Univ Hosp, Ctr Fetal Med, Dept Obstet, Copenhagen, Denmark.
    Ingvoldstad Malmgren, Charlotta
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Lifestyle and rehabilitation in long term illness. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health. Karolinska Inst, Dept Clin Sci Intervent & Technol, Solna, Sweden;Karolinska Univ Hosp, Ctr Fetal Med, Solna, Sweden.
    Tabor, Ann
    Rigshosp, Copenhagen Univ Hosp, Ctr Fetal Med, Dept Obstet, Copenhagen, Denmark.
    Jörgensen, Finn Stener
    Copenhagen Univ Hosp Hvidovre, Dept Obstet & Gynecol, Fetal Med Unit, Kettegaard Alle 30, DK-2650 Hvidovre, Denmark.
    High risk-What's next?: A survey study on decisional conflict, regret, and satisfaction among high-risk pregnant women making choices about further prenatal testing for fetal aneuploidy2019In: Prenatal Diagnosis, ISSN 0197-3851, E-ISSN 1097-0223, Vol. 39, no 8, p. 635-642Article in journal (Refereed)
    Abstract [en]

    Objectives: To investigate decision making among pregnant women when choosing between noninvasive prenatal testing, invasive testing, or no further testing.

    Methods: Women with a high-risk result from the first trimester screening were invited to fill in two online questionnaires at gestational age 12 to 14 (Q1) and 24 weeks (Q2). The scales used were Decisional Conflict and Regret Scales, Satisfaction with genetic Counselling Scale, and Health-Relevant Personality Inventory.

    Results: Three hundred thirty-nine women agreed to participate, and the response rates were 76% on Q1 and 88% on Q2. A percentage of 75.4% chose an invasive test, 23.8% chose noninvasive prenatal testing (NIPT), 0.4% chose no further testing, and 0.4% had both NIPT and invasive testing. Among all participants, 13.3% had a high level of decisional conflict. We found that choosing NIPT was associated with a high decisional conflict (p = 0.013), receiving genetic counselling the same day was associated with a high decisional conflict (p = 0.039), and a high satisfaction with the genetic counselling was associated with low decisional conflict (p < 0.001). Furthermore, the personality subtrait alexithymia was associated with low decisional conflict (p = 0.043). There was a significant association between high decisional conflict and later decisional regret (p = 0.008).

    Conclusion: We present evidence that satisfaction with and timing of counselling are important factors to limit decisional conflict. Interestingly, women choosing NIPT had more decisional conflict than women choosing invasive testing.

  • 3.
    Hayat Roshanai, Afsaneh
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Caring Sciences.
    Lampic, Claudia
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Caring Sciences.
    Ingvoldstad, Charlotta
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Caring Sciences.
    Askmalm, Marie Stenmark
    Bjorvatn, Chathrine
    Rosenquist, Richard
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Hematology and Immunology.
    Nordin, Karin
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Caring Sciences. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    What Information Do Cancer Genetic Counselees Prioritize?2012In: Journal of Genetic Counseling, ISSN 1059-7700, E-ISSN 1573-3599, Vol. 21, no 4, p. 510-526Article in journal (Refereed)
    Abstract [en]

    This study explored the informational needs of individuals attending genetic counseling for hereditary cancer, using a free-choice and a forced choice method. Prior to the consultation the informational needs of 334 counselees from Sweden and Norway were assessed by the QUOTE-gene (ca) questionnaire and by a study specific forced choice method, using Q-methodology. Questionnaire responses indicated that counselees' major concerns pertained to the need to be taken seriously, to be provided with sufficient risk estimation and medical/genetic information and to be involved in the decision making process. Furthermore, prior to counseling, counselees noted that the counselors' consideration and skillfulness were also extremely important. Analysis of the Q-sorting results revealed that counselees' needs could be assigned to one of five groups: the "need for facts; caring communication and medical information; information and support in communicating the genetic information to others; practical care and practical/medical information". Particularly noteworthy, counselees with varying backgrounds characteristics prioritized different needs. Cancer genetic counselees probably have different needs due to their medical and demographic background when attending genetic counseling. Addressing counselees' specific concerns more sufficiently and thereby increasing the overall effectiveness of the counseling session requires increased insight into individual needs, by for instance, utilizing screening methods such as QUOTE-gene (ca) prior to the counseling session.

  • 4.
    Ingvoldstad, Charlotta
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Caring Sciences. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Ohman, Susanne Georgsson
    Lindgren, Peter
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Implementation of combined ultrasound and biochemistry for risk evaluation of chromosomal abnormalities during the first trimester in Sweden2014In: Acta Obstetricia et Gynecologica Scandinavica, ISSN 0001-6349, E-ISSN 1600-0412, Vol. 93, no 9, p. 868-873Article in journal (Refereed)
    Abstract [en]

    Objective. To investigate how the first trimester risk evaluation for Down syndrome is offered and performed. Setting. Sweden. Sample. All 52 known units working with obstetric ultrasound. Methods. Study-specific questionnaire and descriptive statistical analyses. Main outcome measures. Routines for offering combined ultrasound and biochemistry (CUB), questions about information, questions about tests and analysis used for diagnosis. Results. CUB was performed in 28 600 (26%) of the expected 110 000 pregnancies in Sweden during 2011. Of all pregnant women, 15% were living in a county not offering CUB (only invasive prenatal diagnosis); 44% regardless of age; 15% to women = 33 years; 24% to women = 35 years; and 2% to women = 38 years old. Amniocentesis was the most common method offered when the risk was estimated as high. Of the 47 units that replied, 29 (61.7%) offered only amniocentesis. On the questions about information, 40 (95.2%) stated that they gave verbal information. In addition to verbal information, 17 (40.5%) gave written information. Forty-one of the units (71.9%) stated that the CUB is offered to non-Swedish-speaking women. Conclusion. Without consistent national guidelines, the prenatal diagnostic CUB method is offered in an inequitable manner to pregnant women in Sweden. More than half of all pregnant women live in a county where CUB is not offered or is only offered based on age. The results demonstrate the importance of national consistency before the introduction of new prenatal tests, to enhance equal care for all pregnant women.

  • 5.
    Paneque, Milena
    et al.
    Univ Porto, i3S, Oporto, Portugal.;Univ Porto, IBMC, Oporto, Portugal.;Univ Porto, CGPP, Rua Julio Amaral de Carvalho 45, P-4200135 Oporto, Portugal..
    Serra-Juhe, Clara
    Univ Pompeu Fabra, Hosp Mar Res Inst IMIM, Genet Unit, Barcelona, Spain.;Inst Salud Carlos III, CIBERER, Madrid, Spain..
    Pestoff, Rebecka
    Linkoping Univ Hosp, Dept Clin Genet, Linkoping, Sweden.;Linkoping Univ, Dept Clin & Expt Med, Linkoping, Sweden..
    Cordier, Christophe
    Synlab Genet, Dept Genet, Lausanne, Switzerland..
    Silva, Joao
    Univ Porto, i3S, Oporto, Portugal.;Univ Porto, IBMC, Oporto, Portugal.;Univ Porto, CGPP, Rua Julio Amaral de Carvalho 45, P-4200135 Oporto, Portugal..
    Moldovan, Ramona
    Babes Bolyai Univ, Dept Psychol, Cluj Napoca, Romania..
    Ingvoldstad, Charlotta
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Lifestyle and rehabilitation in long term illness. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Obstetrics and Reproductive Health Research. Karolinska Inst, Dept Clin Sci Intervent & Technol, Stockholm, Sweden..
    Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe2017In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 25, no 8, p. 918-923Article in journal (Refereed)
    Abstract [en]

    Clinical genetic services have progressed significantly the last few decades. This has led to the need for non-medical health-care professionals working as genetic counsellors in Europe and worldwide. However, there is no unified approach to genetic counsellors' role in health-care services in Europe, as in most countries the profession is still emerging and the educational backgrounds diverge noticeably, within and between countries. This qualitative study aims to describe the potential added value of genetic counsellors in clinical genetics teams and to explore their tasks and responsibilities in different European countries. A total of 143 participants providing genetic counselling in Europe at the time of the survey responded. The results show differences in activities of genetic counsellors, although there is a wide range of roles, which are similar. The ability to establish a quality relationship with consultands was frequently mentioned as one of the strengths of genetic counsellors, as well as a patient-centred approach. It is believed that genetic counsellors add a more holistic approach of psychosocial and familial dimensions of genetic concerns to the multidisciplinary teams. This study provides examples of successful integration of genetic counsellors in teams, as complementariness with medical geneticist became clear in several cases. Although the added value of genetic counsellors was manifested, professional recognition of genetic counsellors across Europe is still needed in order to support the quality of patients care and safety of practice.

  • 6.
    Pestoff, R.
    et al.
    Linkoping Univ Hosp, Dept Clin Genet, Linkoping, Sweden.;Linkoping Univ, Dept Clin & Expt Med, Linkoping, Sweden..
    Moldovan, R.
    Babes Bolyai Univ, Dept Psychol, Cluj Napoca, Romania..
    Cordier, C.
    Synlab Genet, Dept Genet, Lausanne, Switzerland..
    Serra-Juhe, C.
    Univ Pompeu Fabra Hosp Mar Res Inst IMIM, Genet Unit, Barcelona, Spain.;Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain..
    Paneque, M.
    Univ Porto, I3S Inst Invest & Inovacao Saude, Porto, Portugal.;Univ Porto, Inst Mol & Cell Biol, Ctr Predict & Prevent Genet CGPP, IBMC, Porto, Portugal..
    Ingvoldstad, Charlotta
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Lifestyle and rehabilitation in long term illness. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Obstetrics and Reproductive Health Research. Karolinska Inst, Dept Clin Sci Intervent & Technol, Stockholm, Sweden.
    How practical experiences, educational routes and multidisciplinary teams influence genetic counselors' clinical practice in Europe2018In: Clinical Genetics, ISSN 0009-9163, E-ISSN 1399-0004, Vol. 93, no 4, p. 891-898Article in journal (Refereed)
    Abstract [en]

    The main objective of our study was to explore whether, and to what extent, genetic counselors' characteristics impact on their tasks in practice. Specifically, we explored the complementariness between genetic counselors and medical geneticists and therefore looked at the most relevant tasks of genetic counselors, according to genetic counselors themselves and according to the medical geneticists they work with. A total of 104 genetic counselors and 29 medical geneticists from 15 countries completed a purposefully designed questionnaire. Results showed that most genetic counselors in Europe perform similar tasks, irrespective of their backgrounds. When looking at the factors influencing genetic counselors' roles data showed that the type of tasks performed by genetic counselors is associated with the years of experience in the field, not with their background or education. Of particular interest was the consensus between genetic counselors and medical geneticists regarding the genetic counselor's role. Not surprisingly, tasks with more psychosocial implications were seen as genetic counselors' eligibility while tasks with more medical implications were seen as medical geneticists' attribution. Our study shows that most genetic counselors work in tune with international recommendations and seem to be supportive of multidisciplinary teams. Corroborating our data with previous research, we discuss potential implications for practice and training in genetic counseling.

  • 7.
    Roshanai, Afsaneh Hayat
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Caring Sciences.
    Ingvoldstad, Charlotta
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Lifestyle and rehabilitation in long term illness.
    Lindgren, Peter
    Fetal ultrasound examination and assessment of genetic soft markers in Sweden: are ethical principles respected?2015In: Acta Obstetricia et Gynecologica Scandinavica, ISSN 0001-6349, E-ISSN 1600-0412, Vol. 94, no 2, p. 141-147Article in journal (Refereed)
    Abstract [en]

    ObjectiveTo explore procedures for providing information, assessment and documentation about ultrasound soft markers in Sweden. DesignDescriptive, quantitative, cross-sectional survey. SampleEighty-two percent of all obstetric ultrasound clinics in Sweden (covering >90% of routine fetal ultrasound examinations). MethodsPostal questionnaire survey between December 2010 and January 2011. Main outcome measuresItems about provision of information, risk estimation, and follow-up strategies in relation to observed ultrasound soft markers. ResultsMore than 96% of all fetal routine ultrasound examinations were performed at 15-21 gestational weeks, primarily by midwives. Half of the clinics replying wanted prospective parents to be provided with information, but 38 (78%) of the clinics did not routinely inform about assessment of soft markers before the examination. Follow up and decisions on whether to give information when soft markers were found were based on the number and type of the observed markers, whether other structural deviations existed, and on the woman's age and anxiety level. Only at eight clinics (17%) were parents informed about all soft marker findings. At 13 clinics (28%) observed markers were documented/recorded, even though the women were not informed. ConclusionsInformation regarding the assessment and importance of observed soft markers seems to be inconsistent and insufficient. Provision of information and documentation of findings appear to be handled differently at obstetric ultrasound clinics. This suggests that Swedish ethical principles relating to healthcare and ultrasound examinations are incompletely followed and national guidelines appear to be necessary.

  • 8.
    Roshanai, Afsaneh Hayat
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Caring Sciences.
    Lindgren, Peter
    Nordin, Karin
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Caring Sciences. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Lifestyle and rehabilitation in long term illness.
    Ingvoldstad, Charlotta
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Lifestyle and rehabilitation in long term illness. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Swedish University Students' Opinion Regarding Information About Soft Markers2016In: Journal of Genetic Counseling, ISSN 1059-7700, E-ISSN 1573-3599, Vol. 25, no 1, p. 146-156Article in journal (Refereed)
    Abstract [en]

    The aim of this study was to investigate the opinions of Swedish university students about information regarding soft markers, when observed at second trimester ultrasound screening. A cross-sectional survey, where 85 Swedish university students completed a study specific questionnaire containing eleven hypothetical scenarios, involving various parameters (disease/syndromes/malformations with different characteristics), and location of the markers. Almost all participants indicated that they would wish to be informed, prior to the ultrasound examination, about the assessment and significance of soft markers. However, the number of respondents who requested information about a potential actual finding was considerably less. Several participants wanted to be informed about detected markers associated to serious conditions but not when the marker indicated an increased risk for a treatable disease. Also, the specific location of the marker was of importance to the participants. The majority of respondents wished to be informed about the soft markers if they were observed in the heart or the brain of the foetus, compared to if they were located in the intestine or the skeleton. The students' opinion, in this study, implicate the importance of pre-examination information to enable expectant parents to make informed choice regarding the second trimester ultrasound screening as well as on reciving information of actual findings.

  • 9. Skirton, Heather
    et al.
    Barnoy, Sivia
    Ingvoldstad, Charlotta
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Caring Sciences.
    van Kessel, Ingrid
    Patch, Christine
    O'Connor, Anita
    Serra-Juhe, Clara
    Stayner, Barbara
    Voelckel, Marie-Antoinette
    A Delphi study to determine the European core curriculum for Master programmes in genetic counselling2013In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 21, no 10, p. 1060-1066Article in journal (Refereed)
    Abstract [en]

    Genetic counsellors have been working in some European countries for at least 30 years. Although there are great disparities between the numbers, education, practice and acceptance of these professionals across Europe, it is evident that genetic counsellors and genetic nurses in Europe are working autonomously within teams to deliver patient care. The aim of this study was to use the Delphi research method to develop a core curriculum to guide the educational preparation of these professionals in Europe. The Delphi method enables the researcher to utilise the views and opinions of a group of recognised experts in the field of study; this study consisted of four phases. Phases 1 and 4 consisted of expert workshops, whereas data were collected in phases 2 and 3 (n = 35) via online surveys. All participants in the study were considered experts in the field of genetic counselling. The topics considered essential for genetic counsellor training have been organised under the following headings: (1) counselling; (2) psychological issues; (3) medical genetics; (4) human genetics; (5) ethics, law and sociology; (6) professional practice; and (7) education and research. Each topic includes the knowledge, skills and attitudes required to enable genetic counsellors to develop competence. In addition, it was considered by the experts that clinical practice should comprise 50% of the educational programme. The core Master programme curriculum will enable current courses to be assessed and inform the design of future educational programmes for European genetic counsellors.

  • 10. Skirton, Heather
    et al.
    Cordier, Christophe
    Ingvoldstad, Charlotta
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Lifestyle and rehabilitation in long term illness.
    Taris, Nicolas
    Benjamin, Caroline
    The role of the genetic counsellor: a systematic review of research evidence2015In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 23, no 4, p. 452-458Article, review/survey (Refereed)
    Abstract [en]

    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 multidisciplinary teams in other specialisms.

  • 11.
    Ternby, Ellen
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Annerén, Göran
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medical Genetics.
    Ingvoldstad, Charlotta
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Caring Sciences.
    Lindgren, Peter
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Axelsson, Ove
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    What do pregnant women know about Downs syndrome when they come for prenatal diagnosis?2012Conference paper (Other academic)
  • 12.
    Ternby, Ellen
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Axelsson, Ove
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, Centrum för klinisk forskning i Sörmland (CKFD).
    Annerén, Göran
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.
    Lindgren, Peter
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology. Karolinska Inst, Dept Clin Sci Intervent & Technol CLINTEC Obstet, Stockholm, Sweden.
    Ingvoldstad, Charlotta
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology. Karolinska Inst, Dept Clin Sci Intervent & Technol CLINTEC Obstet, Stockholm, Sweden.
    Why do pregnant women accept or decline prenatal diagnosis for Down syndrome?2016In: Journal of community genetics, ISSN 1868-310X, Vol. 7, no 3, p. 237-242Article in journal (Refereed)
    Abstract [en]

    To investigate if actual knowledge of Down syndrome (DS), influences the decision to accept or decline prenatal diagnosis (PND). Secondary aims were to elucidate reasons for accepting or declining PND and investigate differences between the accepting and declining group in perceived information, knowing someone with DS and thoughts about decision-making. A questionnaire was completed by 76 pregnant women who underwent invasive testing and 65 women who declined tests for chromosomal aberrations in Uppsala, Sweden. Apart from one question no significant differences were found in knowledge of DS between women declining or accepting PND for DS. Both groups had varying and in several respects low levels of knowledge about DS and its consequences. Most common reasons to accept PND were 'to ease my worries' and 'to do all possible tests to make sure the baby is healthy'. Corresponding statements declining PND were 'termination of pregnancy is not an option' and 'because invasive tests increase the risk of miscarriage'. More women declining PND knew someone with DS. Knowledge of DS at these levels is not a major factor when women decide to accept or decline PND for DS. Their choice is mostly based on opinions and moral values.

  • 13.
    Ternby, Ellen
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Ingvoldstad, Charlotta
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology. Department of Clinical Science, Intervention and Technology (CLINTEC), Obstetrics and Gynecology, Karolinska Institutet, Stockholm, Sweden.
    Annerén, Göran
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.
    Axelsson, Ove
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, Centrum för klinisk forskning i Sörmland (CKFD).
    Midwives and information on prenatal testing with focus on Down syndrome2015In: Prenatal Diagnosis, ISSN 0197-3851, E-ISSN 1097-0223, Vol. 35, no 12, p. 1202-1207Article in journal (Refereed)
    Abstract [en]

    OBJECTIVE: To investigate midwives' knowledge of prenatal diagnosis especially Down syndrome, information given by midwives to parents, expectant parents' requests for information and how midwives perceive their own competence to give information.

    METHOD: A cross-sectional, prospective study with a questionnaire was completed by 64 out of 70 midwives working in the outpatient antenatal care in Uppsala County, Sweden.

    RESULTS: The midwives had varying and in some areas low levels of knowledge about Down syndrome. Information about Down syndrome was most often given only when asked for or when there was an increased probability of a Down syndrome pregnancy. The most common questions from expectant parents concerned test methods and risk assessments while questions regarding symptoms of Down syndrome and consequences of having a child with Down syndrome were uncommon. The majority (83-89%) had insufficient or no education regarding different prenatal tests. Only 2 midwives (3%) had received education about Down syndrome and 10% felt they had sufficient knowledge to inform about the syndrome. More education about prenatal tests and Down syndrome was desired by 94%.

    CONCLUSION: It is important to ensure that midwives in antenatal care have sufficient knowledge to inform expectant parents about the conditions screened for.

  • 14.
    Ternby, Ellen
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Ingvoldstad, Charlotta
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Lifestyle and rehabilitation in long term illness.
    Annerén, Göran
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.
    Lindgren, Peter
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Axelsson, Ove
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, Centrum för klinisk forskning i Sörmland (CKFD). Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Information and knowledge about Down syndrome among women and partners after first trimester combined testing2015In: Acta Obstetricia et Gynecologica Scandinavica, ISSN 0001-6349, E-ISSN 1600-0412, Vol. 94, no 3, p. 329-32Article in journal (Refereed)
    Abstract [en]

    We assessed reasons among women and partners for choosing combined ultrasound-biochemistry testing, information and knowledge about Down syndrome and decisions concerning invasive procedures and termination of pregnancy in a prospective cohort study in Uppsala County. In all 105 pregnant women and 104 partners coming for a combined ultrasound-biochemistry test answered a questionnaire. The most common reason for a combined ultrasound-biochemistry test was "to perform all tests possible to make sure the baby is healthy". Internet and midwives were the most common sources of information. Seventy-two percent had not received information on what it means to live with a child with Down syndrome. Many expectant parents perceived information as insufficient. Both women and partners had varying or low levels of knowledge about medical, cognitive and social consequences of Down syndrome. Twenty-five percent had not decided on an invasive test if indicated and only 42% would consider termination of pregnancy with a Down syndrome diagnosis.

1 - 14 of 14
CiteExportLink to result list
Permanent link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf