Editorial: genetic aspects of preconception consultation in primary care

Emery, Jon; Dunlop, Anne L.; Kate, Leo P. ten

doi:10.1007/s12687-012-0106-0

Cited by 3 publications

(3 citation statements)

References 9 publications

(11 reference statements)

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“…It focuses on steps that women, men, and health professionals can take to reduce risks, promote healthy lifestyles, and increase readiness for pregnancy [42][43][44] .…”

Section: Notesmentioning

confidence: 99%

European Recommendations for Primary Prevention of Congenital Anomalies: A Joined Effort of EUROCAT and EUROPLAN Projects to Facilitate Inclusion of This Topic in the National Rare Disease Plans

Taruscio¹,

Arriola²,

Baldi

et al. 2014

Public Health Genomics

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Congenital anomalies (CA) are the paradigm example of rare diseases liable to primary prevention actions due to the multifactorial etiology of many of them, involving a number of environmental factors together with genetic predispositions. Yet despite the preventive potential, lack of attention to an integrated preventive strategy has led to the prevalence of CA remaining relatively stable in recent decades. The 2 European projects, EUROCAT and EUROPLAN, have joined efforts to provide the first science-based and comprehensive set of recommendations for the primary prevention of CA in the European Union. The resulting EUROCAT-EUROPLAN ‘Recommendations on Policies to Be Considered for the Primary Prevention of Congenital Anomalies in National Plans and Strategies on Rare Diseases' were issued in 2012 and endorsed by EUCERD (European Union Committee of Experts on Rare Diseases) in 2013. The recommendations exploit interdisciplinary expertise encompassing drugs, diet, lifestyles, maternal health status, and the environment. The recommendations include evidence-based actions aimed at reducing risk factors and at increasing protective factors and behaviors at both individual and population level. Moreover, consideration is given to topics specifically related to CA (e.g. folate status, teratogens) as well as of broad public health impact (e.g. obesity, smoking) which call for specific attention to their relevance in the pre- and periconceptional period. The recommendations, reported entirely in this paper, are a comprehensive tool to implement primary prevention into national policies on rare diseases in Europe.

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“…It focuses on steps that women, men, and health professionals can take to reduce risks, promote healthy lifestyles, and increase readiness for pregnancy [42][43][44] .…”

Section: Notesmentioning

confidence: 99%

European Recommendations for Primary Prevention of Congenital Anomalies: A Joined Effort of EUROCAT and EUROPLAN Projects to Facilitate Inclusion of This Topic in the National Rare Disease Plans

Taruscio¹,

Arriola²,

Baldi

et al. 2014

Public Health Genomics

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“…On the other hand, this type of marriage, consanguineous marriage, is not common in the developed countries where the level of education is high as many studies revealed an association between the level of education and the prevalence of consanguinity marriage in which the higher the education, the lower the consanguinity marriage rate (El-Ghany, et al, 2010); Hmamy, 2012).…”

Section: Introductionmentioning

confidence: 99%

Knowledge and Attitude towards Consanguineous Marriage among Secondary School Students in Al- Mukalla District, Yemen

Al-Hebshi,

Bazarah,

Abobaker

et al. 2024

Journal of Health Care Research

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Background: Consanguineous marriage is defined as a relationship or union between two individuals who are sharing common ancestors as the first or second cousins. Aim: This study was aimed to determine the knowledge and attitude towards consanguineous marriage among secondary school students in Al-Mukalla district, Yemen. Method: A cross sectional study was conducted among governmental and private secondary school students in Al-Mukalla district during the educational year 2021/2022. A multistage sampling method was used for selection the participants. The data were collected by using a 406 pre-tested self-administered questionnaire computed from another study. Results: The total of 406 students aged (15-22) years participated in the study. (79.3%) in age group (15)(16)(17)(18). Male students comprised (53%) of the sample and the remaining (47%) were females. Most of the participants had moderate knowledge and neutral attitude (81.3% and 69% respectively). About one half of them heard about the association between consanguineous marriage with thalassemia and congenital anomalies. Friends, school and internet were the most prevalence sources of information. Males had significantly higher knowledge score than females, on other hand females had higher attitude score towards consanguineous marriage compared to males (P=0.002 and P=0.000 respectively). Conclusion and recommendations: Most of the participants had moderate knowledge and neutral attitude towards consanguineous marriage. Educational campaigns are needed to raise awareness at the school level to transfer knowledge from classroom to homes. Social media and television should play an important role in conveying health information to the public in urban and rural area.

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“…Despite these disadvantages, and increasing knowledge about possible risks to the foetus during pregnancy due to parental medical conditions, obstetric and family history and environmental exposure, referral to clinical genetic services takes place to a limited degree or somewhat late [3,7,[8][9][10][11][12][13][14]. Late referrals require considerable resources in order to provide less than optimum solutions for the couple.…”

Section: Introductionmentioning

confidence: 99%

Prenatal genetic counselling: issues and perspectives for pre-conceptional health care in Emilia Romagna (Northern Italy)

Lucci¹,

Astolfi²,

Bigoni³

et al. 2022

ebph

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Background: there are many reasons why a couple may seek specialist genetic counselling about foetal risk. The referral for prenatal genetic counselling of women with a known risk factor during pregnancy has many disadvantages. Despite this, 10-20% of women seek counselling when already pregnant. Methods: data on 804 pregnant women out of 2 158 (37.3%) referred for genetic counselling in 2010 to three Clinical Genetic Services were retrospectively analysed. Patients referred only for advanced maternal age were analysed in a separate study. Results: the 804 pregnant women were referred for 932 counselling issues. 325 issues (34.9%) were identified during pregnancy and 607 (65.1%) were pre-existing. 81.2% of Italians compared to 41.8% of the non-Italians (P<0.01) had access to counselling before 13 weeks of gestation for risk factors present before pregnancy. An accurate genetic diagnosis was available in 25.0% of cases. In 21.7% of the cases an elevated a priori risk of >10% for the unborn child was established. Conclusions: genetic services provide 37.3% of counselling to pregnant women. Referral for genetic counselling during pregnancy can require considerable resources and pose significant ethical and organizational challenges. New models of pregnancy care in the community need to be developed. General practitioners and gynaecologists have an important role in the referral and in the defence of equity of access and a more structured approach to the participation of medical geneticists to primary practice should be considered.

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Editorial: genetic aspects of preconception consultation in primary care

Cited by 3 publications

References 9 publications

European Recommendations for Primary Prevention of Congenital Anomalies: A Joined Effort of EUROCAT and EUROPLAN Projects to Facilitate Inclusion of This Topic in the National Rare Disease Plans

European Recommendations for Primary Prevention of Congenital Anomalies: A Joined Effort of EUROCAT and EUROPLAN Projects to Facilitate Inclusion of This Topic in the National Rare Disease Plans

Knowledge and Attitude towards Consanguineous Marriage among Secondary School Students in Al- Mukalla District, Yemen

Prenatal genetic counselling: issues and perspectives for pre-conceptional health care in Emilia Romagna (Northern Italy)

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