The perception of genetic diseases and premarital screening tests in the central region of Saudi Arabia.

The prevalence of consanguineous marriages (CMs) varies worldwide from one country to another. However, the Middle East stands out as a region with a notably high rate of CMs. CM is particularly widespread in Saudi Arabia, where the prevalence of autosomal recessive genetic diseases has increased. This study aims to identify the Saudi population's awareness of genetic diseases and premarital screening tests (PMSTs). It also seeks to understand couples' perceptions of genetic diseases before and after marriage and their attitudes towards PMSTs and genetic counselling (GC) in reducing the risk of CM. Through the administration of online questionnaires, this cross-sectional study surveyed 2,057 participants to assess their awareness of genetic diseases and their understanding of testing and preventive measures for inherited diseases. Descriptive analysis, nonparametric chi-square tests and logistic regressions were performed to assess the association of categorical responses. This study included 2,035 Saudi Arabian respondents. A significant correlation was found between positive family history and partner selection (p = 0.001), as well as between partnering within the same tribe (p = 0.000139), with a different tribe (p = 0.000138) and from another family (p = 0.000489). About 91.3% of participants expressed agreement regarding the need to enhance public awareness and knowledge concerning genetic disorders, while 87% agreed that increased government regulations are required to prevent the spread of genetic diseases in affected families. Despite increased awareness of genetic diseases and PMSTs, there appears to be a lack of understanding regarding the limitations of PMSTs. The persistently high rate of CM underscores the challenge of altering marriage customs. Further governmental efforts are required to promote awareness of alternative reproductive options, establish new regulations and expand screening programmes.

Update on the practice of premarital screening for sickle cell traits in Africa: a systematic review and meta-analysis.

BACKGROUND: Screening for sickle cell traits before marriage or producing children is one of the outstanding preventive measures for sickle cell disease (SCD).The disease is a collection of inherited blood disorders that impact millions globally, with a predominant 75% occurrence in the sub-Saharan region. With increasing burden of SCD on the continent amidst a cost effective prevention method, no study has systematically reviewed or presented meta-analytic uptake or practice of premarital sickle cell trait screening. METHODS: This review systematically explored the uptake or practice of premarital genotype screening in Africa. We searched PubMed and Scopus databases for African studies on premarital screening for sickle cell traits. RESULTS: Our results indicate that the pooled uptake of premarital sickle cell trait screening in Africa is 47.82% (95% CI: [46.53-49.11]; I2: 98.95% [98.74-99.13]). Our review observed, a significant relationship between the awareness of sickle cell disease and the uptake of genotype screening; F(1, 13) = 12.04, p = 0.004). The model explained approximately 48.08% of the variation in genotype screening (R² = 0.4808) and predicted a 0.729 increase in the likelihood of genotype screening uptake for every unit rise in sickle cell disease awareness (ß = 0.729, p = 0.004). Additionally, Pearson correlation (r = 0.6934) indicated a moderately strong positive correlation between the two variables. CONCLUSION: With over 75% of the global burden of sickle cell disease domiciled in Africa, the continent cannot overlook the cost of hemoglobinopathies. The uptake of sickle cell traits screening is suboptimal across the continent. To achieve the mandate of sustainable development goal number (3); to end preventable deaths of newborns and children under 5 years of age by 2030, there is need to intensify campaigns on premarital genetic screening through education and other health promotion tools.

Premarital Screening is Pivotal in Reducing the Births of Babies Affected with Thalassemia Major in Iraq.

Thalassemia major is one of the health problems in Iraq, especially in Kurdistan. Pre-marriage mandatory preventive screening program was established in Kurdistan in 2008, which allowed us to study the prevalence of different hemoglobinopathies among newly married young adults in this region. A total of 1154 subjects (577 couples) attending the Koya district, premarital Health center, were screened using red cell indices. Those who had mean corpuscular volume (MCV)<80 fl and mean corpuscular hemoglobin (MCH)<27 pg had high-performance liquid chromatography and iron studies. Out of 1154 individuals that were evaluated, 183 (11.9%) had low MCV and MCH. Of the former 183 subjects, 69 (5.97%) had ß-thalassemia trait, 10 (0.86%) had δß-thalassemia trait, and no other hemoglobinopathies were recorded in our study. There was second-degree consanguinity in 4.7% of all 577 couples. In two couples, both partners had ß-thalassemia trait and both were consanguineous. Both couples decided to separate after counseling. Based on the current study, the role of the premarital screening program in decreasing the number of new thalassemia major cases among the Kurdish population is laudable. Therefore, mandatory premarital screening is advised in all parts of Iraq.

Premarital screening programme in Saudi Arabia: Insights into men's awareness and perceptions.

This study investigates the knowledge and attitudes of Saudi men on premarital screening, 19 years after its implementation. A cohort of 133 males was examined. Out of the 133 male screening participants, a significant majority of 126 individuals (94.7%) were found to be aware of the premarital screening program. A smaller number of individuals (88, 66.2%) were aware of the conditions detected by the screening. A disagreement developed on the legality of marriage in the event of an adverse test result. Many participants stated that the primary purpose of the premarital screening program was to lessen the social and familial burdens associated with incompatible marriages. Many respondents preferred that the program include mental illness and drug testing. Even if compatibility existed, a sizeable proportion of respondents declined to proceed with the marital procedure if one companion was a carrier. The participants had a clear understanding of the importance of premarital screening. However, this assertion contradicts the current evidence regarding the prevalence of hereditary diseases. To reduce disease burden, the significance of the program and the value of making informed decisions following examinations must be emphasized.

Cette étude examine les connaissances et les attitudes des hommes saoudiens en matière de dépistage prénuptial, 19 ans après sa mise en œuvre. Une cohorte de 133 hommes a été examinée. Sur les 133 hommes participants au dépistage, une majorité significative de 126 personnes (94,7 %) connaissaient le programme de dépistage prénuptial. Un plus petit nombre de personnes (88, 66,2 %) étaient au courant des conditions détectées lors du dépistage. Un désaccord s'est développé sur la légalité du mariage en cas de résultat négatif au test. De nombreux participants ont déclaré que l'objectif principal du programme de dépistage prénuptial était d'alléger les fardeaux sociaux et familiaux associés aux mariages incompatibles. De nombreux répondants préféraient que le programme inclue les tests de dépistage des maladies mentales et des drogues. Même si la compatibilité existait, une proportion importante de personnes interrogées refusaient de procéder à la procédure de mariage si l'un des compagnons était porteur. Les participants comprenaient clairement l'importance du dépistage prénuptial. Cependant, cette affirmation contredit les preuves actuelles concernant la prévalence des maladies héréditaires. Pour réduire le fardeau de la maladie, il faut souligner l'importance du programme et l'importance de prendre des décisions éclairées à la suite des examens.

Saudi Arabian women's knowledge and attitudes towards premarital screening of genetic disorders.

This study assessed the knowledge and attitudes of Saudi women regarding the premarital screening program (PMS) using a tailored questionnaire survey. Of the 185 participants, 176 (95.1%) were familiar with PMS, and 117 (63.2%) were aware of the diseases that the screening tests aim to detect. The majority of participants supported also including screenings for drug use and mental illness. When considering the situation of compatible partners with one being a carrier, a considerable proportion of respondents indicated they would not proceed with matrimony. Overall, the level of awareness and attitudes concerning the critical significance of PMS were deemed satisfactory. To mitigate the impact of diseases, it is imperative to continue disseminating information concerning the program, its importance, and the necessity of making well-informed decisions after the evaluations.

Cette étude a évalué les connaissances et les attitudes des femmes saoudiennes concernant le programme de dépistage prénuptial (PMS) à l'aide d'un questionnaire personnalisé. Sur les 185 participants, 176 (95,1 %) connaissaient le syndrome prémenstruel et 117 (63,2 %) connaissaient les maladies que les tests de dépistage visent à détecter. La majorité des participants étaient également favorables à l'inclusion de dépistages de la consommation de drogues et de la maladie mentale. Lorsqu'on considère la situation des partenaires compatibles, dont l'un est porteur, une proportion considérable de personnes interrogées ont indiqué qu'elles ne procéderaient pas au mariage. Dans l'ensemble, le niveau de sensibilisation et les attitudes concernant l'importance critique du syndrome prémenstruel ont été jugés satisfaisants. Pour atténuer l'impact des maladies, il est impératif de continuer à diffuser des informations concernant le programme, son importance et la nécessité de prendre des décisions éclairées après les évaluations.

Health beliefs of unmarried adult Saudi individuals toward safe marriage and the role of premarital screening in avoiding consanguinity: a nationwide cross-sectional study.

Introduction: Premarital screening (PMS) is an essential global measure that seeks to reduce the occurrence of specific genetic disorders and sexually transmitted diseases common in consanguineous marriages. Due to the lack of a nationwide study, this research was designed to comprehend how unmarried individuals perceive the risks and benefits of PMS. Method: A cross-sectional study was conducted using an online questionnaire distributed through different social media platforms, responses from the native adult population (18-49 years) Saudi Arabia was only included in the study. The questionnaire was based on the Health Belief Model (HBM) to assessing seven different constructs including susceptibility, seriousness, benefits-, barriers-, & cues- to action, self-efficacy, and social acceptance. Data frequency was represented by mean and standard deviation; chi-square and t-tests were conducted for the comparison of independent and dependent variables. A multinomial logistic regression was used to predict factors influencing decisions related to PMS. Results: 1,522 participants completed the survey, mostly 18-25 years old and most of them were women. The majority were single with 85 men and 1,370 women. Most participants (59.6%) believed their parents were related, while 40.5% did not. 122 respondents reported they had to marry within their tribe. Findings revealed significant correlations among all HBM themes, with varying strengths. Notably, a moderate positive relationship was found between the perception of benefits and cues to action, suggesting that enhancing the perceived benefits of PMS could facilitate safe marriage practices. Multinomial regression analysis revealed that demographic factors and health beliefs significantly influence individuals' intentions and behaviors toward PMS and safe marriage. Conclusion: The study concludes that by identifying and addressing barriers, and promoting positive social acceptance, PMS can significantly contribute to preventing genetic diseases and promoting safe marriage practices, although the cross-sectional design limits the establishment of causal relationships and further research is needed.

O exame pré-nupcial: um rito de passagem da saúde pública / Premarital examination: a rite of passage in public health

Nas primeiras décadas deste século, o exame pré-nupcial, concebido para proteger a prole de riscos atribuídos à hereditariedade, funcionou como um verdadeiro rito de passagem na rotina de saúde pública. Um texto educativo a respeito é discutido.

A regulação política da sexualidade no âmbito da família por saberes e instituições médicas brasileiras (1838-1940) / The political regulation of sexuality within the family for Brazilian medical knowledge and institutions (1838-1940)

Esta tese tem como objeto a regulação política da sexualidade no âmbito da família por saberes e instituições médicas brasileiras (1838-1940). Orienta-se pelo interesse em analisar continuidades e descontinuidades na construção de objetos, estratégias e táticas políticas direcionados para a regulação higiênica e eugênica do casamento e da sexualidade infantil. De inspiração foucaultiana, inscreve-se no campo da história dos saberes e estásubsidiada por um conjunto heterogêneo de documentos (teses, artigos de periódicos, livros, anais etc.) circunscritos, majoritariamente, ao campo da medicina. Analisa a constituição de uma defesa higiênica dos casamentos no pensamento médico novecentista, voltada pararemanejamentos das figuras de esposa e marido na nova configuração de família que começava a se esboçar no Brasil, contrastando-a com a regulação católica da moral sexual colonial. Em seguida, descreve a visibilidade higiênica que a medicina dará a infância no século XIX, problematizando especificamente o interesse pelo tema da masturbação, que articula simultaneamente a família, centrada na figura da mãe, e a escola na convocação de zelar pela criança. Partindo das contradições sociais que se apresentaram na construção doprojeto liberal nacional a partir da década de 1870, discute a apropriação do discurso da degenerescência pelo saber médico-psiquiátrico brasileiro, que propiciou uma leitura da brasilidade marcada pelo excesso sexual e pela condição “degenerada” da miscigenação, a fim de pensar as condições de possibilidade para a emergência do projeto de eugeniamatrimonial institucionalizado nas primeiras décadas do século XX e toma como táticas a campanha pela compulsoriedade do exame pré-nupcial, o combate aos casamentosconsanguíneos, o controle do contágio venéreo e o aconselhamento sexual dos casais...

Anticuerpos de rubéola en mujeres solicitantes de certificado prenupcial en Mar del Plata, Argentina / Rubella antibodies in women applying for a medical certificate for marriage in Mar del Plata, Argentina

Se realizó éste trabajo con el fin de conocer la tasa de susceptibles a la infección por el virus de la rubéola en la población femenina solicitante del certificado prenupcial, dado que éste es uno de los factores causantes de malformaciones congénitas

Algunas consideraciones juridicas sobre el Sindrome de Inmuno Deficiencia Adquirida (SIDA) en Panama / Legal considerations on acquired immunodeficiency syndrome (AIDS) in Panama

Se estudian las consecuencias jurídicas de la omisión de denunciar los casos de Síndrome de Inmuno Deficiencia Adquirida (SIDA) y la celebración de matrimonios con una o entre personas que sufren de la enfermedad, porque atentan contra la salud pública y vulneran la integridad de la familia

La detección de anticuerpos contra el VIH como evaluación prenupcial / The detection of a antibodies against HIV as a prenuptial evaluation

Introducción. En Yucatán, México la infección por el VIH (IVIH) es predominantemente una enfermedad de transmisión sexual. La transmisión por práctica heterosexuales se ha incrementado particularmente en mujeres cuyo factor de riesgo son las prácticas bisexuales de sus parejas. Un reporte demostró que la transmisión heterosecual había ocurrido en el 66 por ciento de la sparejas conyugales de los hombres que incialmente se identificaron como infectados y en el 20 por ciento de las parejas en las que la mujer era la infectada inicialmente. El objetivo del presente trabajo es determinar la prevalencia de IVIH en un grupo de parejas heterosexuales. Material y Métodos. Entre marzo de 1994 y noviembre de 1997 se estudiaron 251 parejas a realizarse de manera coluntaria la determinación Ac-VIH como evaluación prenupcial. Se recabaron datos epidemiológicos y demográficos y se tomó muestra sanguínea pa detección a través de Ensayo Inmunoenzimático (ImmunoComb II, Orgenics, Yaune, Israel). De los resultados se obtuvo la prevalencia de IVIH y el intervalo de confianza al 95 por ciento. Resultados. La edad promedio de grupo fue de 26 años clinicamente sanos. Durante los 44 mese se reportó un caso de seropositividad con una prevalencia de 0.2 por ciento (I.C. 95 por ciento: 0.196-0.203) en un hombre de 24 años, confirmándose por Western blot. Discusión. La frecuencia de Ac-NIH en este grupo de personas fue de 0.2 por ciento, cifra similar a la reportada en donadores de sangre del centro Estatal de la Transfusión Sanguínea del Estado de Yucatán (0.3 por ciento)

Impact of preconception health education on health locus of control and self-efficacy in women

The preconception period is an ideal opportunity to optimize women's health. This study of women attending premarital clinics in the Islamic Republic of Iran aimed to evaluate the impact of a health education workshop on their health locus of control and self-efficacy in physical activity. The design was a randomized controlled trial with a questionnaire before and after the intervention. At post-intervention, there were significant increases in scores of internal health locus of control and self-efficacy in the experimental group [n = 109] compared to the control group [n = 101]. It was concluded that a short-term health education may empower women to adopt healthy lifestyles

Frequency of haemoglobinopathies at premarital health screening in Dohuk, Iraq: implications for a regional prevention programme

Beta-thalassaemia major and sickle-cell disease are important health problems in Iraq. To provide information for a prevention programme, the frequency of haemoglobin disorders was mapped in Dohuk governorate. A total of 591 couples [1182 individuals] attending health centres for premarital health screening were tested; 44 [3.7%] were found to be carriers of beta-thalassaemia, 14 [1.2%] of the sickle-cell gene and 1 [0.1%] of delta beta-thalassaemia. A total of 3 couples [i.e. 5/1000] were at risk of having a child with beta-thalassaemia major, and the estimated number of affected children with a major haemoglobinopathy was 39 per year. The findings stress the importance of a regional prevention programme for haemoglobinopathies based on premarital screening, counselling and prenatal diagnosis