Consanguineous marriage and reproductive risk: attitudes and understanding of ethnic groups practising consanguinity in Western society.

Consanguineous couples should be adequately informed about their increased reproductive risk and possibilities for genetic counselling. Information may only be effective if it meets the needs of the target group. This study aimed to gain more insight into: (1) attitudes of people belonging to ethnic groups in Western society towards consanguinity and their understanding of risk for offspring; and (2) their attitudes regarding reproductive information targeted at consanguineous couples. Dutch Moroccans and Turks were invited to complete an online questionnaire by snowball sampling and by placing a link on two popular Dutch Moroccan/Turkish forum websites between September and October 2011. The questionnaire was completed by 201 individuals who were, on average, neither positive nor negative towards consanguinity. Respondents with a consanguineous partner were more positive, estimated the risk for the offspring lower and were less positive about the provision of risk information to consanguineous couples when compared with respondents without a consanguineous partner. Participants of Turkish origin had a more negative attitude towards consanguinity and estimated the reproductive risk higher than Moroccan participants. More than half of the respondents thought that information should be given before marriage, whereas only 10% thought it should never be provided. The general practitioner was most often mentioned (54%) as the designated professional to inform people. Information about genetic risks related to consanguinity should be offered early, preferably before marriage. The diversity of the target population requires various strategies to disseminate information and reach consanguineous couples with the offer of genetic counselling.

Preconceptional genetic carrier testing and the commercial offer directly-to-consumers.

Recently, a number of commercial companies are offering preconceptional carrier tests directly-to-consumers. This offer raises a number of concerns and issues above and beyond those encountered with preconceptional tests offered within the traditional health care setting. In order to bring some of these issues to light and to initiate dialogue on this topic, this article discusses the following issues: the current offer of preconceptional carrier tests (until the end of 2010) through online commercial companies; the implications for the informed consent procedure and the need for good information; the need for medical supervision and follow-up; and the appropriate use of existing resources. The article concludes with some reflections about the potential sustainability of the offer of preconceptional carrier tests directly-to-consumers.

Informed decision making in the context of prenatal screening.

OBJECTIVE: This study aimed to construct a measure of informed decision making that includes knowledge, deliberation, and value-consistency, and to assess the level of informed decision making about prenatal screening, and differences between test acceptors and test decliners. METHODS: Women attending one of 44 midwifery and gynaecology practices were asked to fill out postal questionnaires before and after the prenatal screening offer. The principal outcome was the level of informed decision making. For this purpose, knowledge about prenatal screening, deliberation about the pros and cons of the alternatives, test uptake, and attitude towards having a prenatal screening test were measured. RESULTS: Eighty-four percent of the participants were sufficiently knowledgeable about prenatal screening, 75% of the decisions were deliberate, and 82% were value-consistent. Fifty-one percent of the participants made an informed decision. Test acceptors made less informed decisions as compared to test decliners. This difference was mainly caused by the lower rate of deliberation in this group. CONCLUSION: It appears from this study that prenatal screening decisions are often not informed decisions. This is inconsistent with the main objective of offering screening, which is to enable people to make informed decisions. PRACTICE IMPLICATIONS: Decision makers should be encouraged during the counselling to deliberate about the various alternatives.

Are pregnant women making informed choices about prenatal screening?

PURPOSE: Prenatal screening should enable pregnant women to make informed choices. An informed decision is defined as being based on sufficient, relevant information and consistent with the decision maker's values. This study aims to assess to what extent pregnant women make informed choices about prenatal screening, and to assess the psychological effects of informed decision-making. METHODS: The study sample consisted of 1159 pregnant women who were offered the nuchal translucency measurement or the maternal serum screening test. Level of knowledge, value consistency, informed choice, decisional conflict, satisfaction with decision, and anxiety were measured using questionnaires. RESULTS: Of the participants, 83% were classified as having sufficient knowledge about prenatal screening, 82% made a value-consistent decision to accept or decline prenatal screening, and 68% made an informed decision. Informed choice was associated with more satisfaction with the decision, less decisional conflict (this applied only to test acceptors), but was not associated with less anxiety. CONCLUSION: Although the rate of informed choice is relatively high, substantial percentages of women making uninformed choices due to insufficient knowledge, value inconsistency, or both, were found. Informed choice appeared to be psychologically beneficial. The present study underlines the importance of achieving informed choice in the context of prenatal screening.