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Ingvoldstad, Charlotta
Publications (10 of 14) Show all publications
Hartwig, T. S., Miltoft, C. B., Ingvoldstad Malmgren, C., Tabor, A. & Jörgensen, F. S. (2019). 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 aneuploidy. Prenatal Diagnosis, 39(8), 635-642
Open this publication in new window or tab >>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 aneuploidy
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2019 (English)In: Prenatal Diagnosis, ISSN 0197-3851, E-ISSN 1097-0223, Vol. 39, no 8, p. 635-642Article in journal (Refereed) Published
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.

Place, publisher, year, edition, pages
WILEY, 2019
National Category
Obstetrics, Gynecology and Reproductive Medicine
Identifiers
urn:nbn:se:uu:diva-392588 (URN)10.1002/pd.5476 (DOI)000478575800007 ()31083781 (PubMedID)
Available from: 2019-09-06 Created: 2019-09-06 Last updated: 2019-09-06Bibliographically approved
Abacan, M., Alsubaie, L., Barlow-Stewart, K., Caanen, B., Cordier, C., Courtney, E., . . . Wicklund, C. (2019). The Global State of the Genetic Counseling Profession. European Journal of Human Genetics, 27(2), 183-197
Open this publication in new window or tab >>The Global State of the Genetic Counseling Profession
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2019 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 27, no 2, p. 183-197Article, review/survey (Refereed) Published
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.

Place, publisher, year, edition, pages
NATURE PUBLISHING GROUP, 2019
National Category
Medical Genetics
Identifiers
urn:nbn:se:uu:diva-377106 (URN)10.1038/s41431-018-0252-x (DOI)000455983900002 ()30291341 (PubMedID)
Available from: 2019-02-18 Created: 2019-02-18 Last updated: 2019-02-18Bibliographically approved
Pestoff, R., Moldovan, R., Cordier, C., Serra-Juhe, C., Paneque, M. & Ingvoldstad, C. (2018). How practical experiences, educational routes and multidisciplinary teams influence genetic counselors' clinical practice in Europe. Clinical Genetics, 93(4), 891-898
Open this publication in new window or tab >>How practical experiences, educational routes and multidisciplinary teams influence genetic counselors' clinical practice in Europe
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2018 (English)In: Clinical Genetics, ISSN 0009-9163, E-ISSN 1399-0004, Vol. 93, no 4, p. 891-898Article in journal (Refereed) Published
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.

Place, publisher, year, edition, pages
WILEY, 2018
Keywords
genetic counseling, medical genetics, multidisciplinary practice
National Category
Medical Genetics
Identifiers
urn:nbn:se:uu:diva-350725 (URN)10.1111/cge.13197 (DOI)000427471000019 ()29251775 (PubMedID)
Available from: 2018-05-16 Created: 2018-05-16 Last updated: 2018-05-16Bibliographically approved
Paneque, M., Serra-Juhe, C., Pestoff, R., Cordier, C., Silva, J., Moldovan, R. & Ingvoldstad, C. (2017). Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe. European Journal of Human Genetics, 25(8), 918-923
Open this publication in new window or tab >>Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe
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2017 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 25, no 8, p. 918-923Article in journal (Refereed) Published
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.

Place, publisher, year, edition, pages
NATURE PUBLISHING GROUP, 2017
National Category
Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy)
Identifiers
urn:nbn:se:uu:diva-329900 (URN)10.1038/ejhg.2017.76 (DOI)000405480900004 ()
Available from: 2018-02-22 Created: 2018-02-22 Last updated: 2018-02-22Bibliographically approved
Roshanai, A. H., Lindgren, P., Nordin, K. & Ingvoldstad, C. (2016). Swedish University Students' Opinion Regarding Information About Soft Markers. Journal of Genetic Counseling, 25(1), 146-156
Open this publication in new window or tab >>Swedish University Students' Opinion Regarding Information About Soft Markers
2016 (English)In: Journal of Genetic Counseling, ISSN 1059-7700, E-ISSN 1573-3599, Vol. 25, no 1, p. 146-156Article in journal (Refereed) Published
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.

Keywords
Presumptive parents'; University students; Information request; Soft markers; Ultrasound examination; Second trimester; Informed decision
National Category
Other Medical Sciences Obstetrics, Gynecology and Reproductive Medicine
Identifiers
urn:nbn:se:uu:diva-267847 (URN)10.1007/s10897-015-9852-6 (DOI)000368707400016 ()26163102 (PubMedID)
Available from: 2015-11-27 Created: 2015-11-27 Last updated: 2019-10-11Bibliographically approved
Ternby, E., Axelsson, O., Annerén, G., Lindgren, P. & Ingvoldstad, C. (2016). Why do pregnant women accept or decline prenatal diagnosis for Down syndrome?. Journal of community genetics, 7(3), 237-242
Open this publication in new window or tab >>Why do pregnant women accept or decline prenatal diagnosis for Down syndrome?
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2016 (English)In: Journal of community genetics, ISSN 1868-310X, Vol. 7, no 3, p. 237-242Article in journal (Refereed) Published
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.

National Category
Medical and Health Sciences
Identifiers
urn:nbn:se:uu:diva-300828 (URN)10.1007/s12687-016-0272-6 (DOI)000386778700007 ()27438596 (PubMedID)
Available from: 2016-08-15 Created: 2016-08-15 Last updated: 2016-12-07Bibliographically approved
Roshanai, A. H., Ingvoldstad, C. & Lindgren, P. (2015). Fetal ultrasound examination and assessment of genetic soft markers in Sweden: are ethical principles respected?. Acta Obstetricia et Gynecologica Scandinavica, 94(2), 141-147
Open this publication in new window or tab >>Fetal ultrasound examination and assessment of genetic soft markers in Sweden: are ethical principles respected?
2015 (English)In: Acta Obstetricia et Gynecologica Scandinavica, ISSN 0001-6349, E-ISSN 1600-0412, Vol. 94, no 2, p. 141-147Article in journal (Refereed) Published
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.

Keywords
Ethical principles, fetal ultrasound examination, genetic ultrasound markers, soft markers, second trimester, antenatal care, diagnosis
National Category
Obstetrics, Gynecology and Reproductive Medicine Medical Genetics
Identifiers
urn:nbn:se:uu:diva-246808 (URN)10.1111/aogs.12554 (DOI)000348718800004 ()
Note

De två första författarna delar förstaförfattarskapet.

Available from: 2015-03-16 Created: 2015-03-10 Last updated: 2019-10-11Bibliographically approved
Ternby, E., Ingvoldstad, C., Annerén, G., Lindgren, P. & Axelsson, O. (2015). Information and knowledge about Down syndrome among women and partners after first trimester combined testing. Acta Obstetricia et Gynecologica Scandinavica, 94(3), 329-32
Open this publication in new window or tab >>Information and knowledge about Down syndrome among women and partners after first trimester combined testing
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2015 (English)In: Acta Obstetricia et Gynecologica Scandinavica, ISSN 0001-6349, E-ISSN 1600-0412, Vol. 94, no 3, p. 329-32Article in journal (Refereed) Published
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.

National Category
Obstetrics, Gynecology and Reproductive Medicine
Identifiers
urn:nbn:se:uu:diva-245332 (URN)10.1111/aogs.12560 (DOI)000349603600016 ()25582972 (PubMedID)
Available from: 2015-02-26 Created: 2015-02-26 Last updated: 2017-12-04Bibliographically approved
Ternby, E., Ingvoldstad, C., Annerén, G. & Axelsson, O. (2015). Midwives and information on prenatal testing with focus on Down syndrome. Prenatal Diagnosis, 35(12), 1202-1207
Open this publication in new window or tab >>Midwives and information on prenatal testing with focus on Down syndrome
2015 (English)In: Prenatal Diagnosis, ISSN 0197-3851, E-ISSN 1097-0223, Vol. 35, no 12, p. 1202-1207Article in journal (Refereed) Published
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.

National Category
Obstetrics, Gynecology and Reproductive Medicine Medical Genetics
Identifiers
urn:nbn:se:uu:diva-268688 (URN)10.1002/pd.4676 (DOI)000368442000007 ()26279318 (PubMedID)
Available from: 2015-12-09 Created: 2015-12-09 Last updated: 2018-01-10Bibliographically approved
Skirton, H., Cordier, C., Ingvoldstad, C., Taris, N. & Benjamin, C. (2015). The role of the genetic counsellor: a systematic review of research evidence. European Journal of Human Genetics, 23(4), 452-458
Open this publication in new window or tab >>The role of the genetic counsellor: a systematic review of research evidence
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2015 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 23, no 4, p. 452-458Article, review/survey (Refereed) Published
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.

National Category
Medical Genetics
Identifiers
urn:nbn:se:uu:diva-251675 (URN)10.1038/ejhg.2014.116 (DOI)000350878200007 ()24916644 (PubMedID)
Available from: 2015-04-24 Created: 2015-04-23 Last updated: 2018-01-11Bibliographically approved
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