BACKGROUND: Despite the increase in hereditary disease in Arab countries due to the high rates of consanguineous marriages, research on community awareness of premarital screening (PMS) for disease carriers is still scarce.
OBJECTIVE: To investigate knowledge and attitudes toward genetic PMS programs among university students in Libya.
METHODS: A cross-sectional study was conducted using a self-administered questionnaire distributed to 421 Libyan students aged 18-25 years at the University of Tripoli.
RESULTS: Most of the participants (79%, n=316) agreed that a PMS program is important and expressed willingness to have PMS programs if they were advised to do so. Two-thirds of participants (67%, n=268) had heard of PMS programs, of whom (27.2%, n=73) heard of them from social media.
CONCLUSIONS: Most of the university students had good knowledge of PMS but poor knowledge of the hereditary disease targeted by PMS. Most of them had a positive attitude toward PMS.

UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.

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.

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.

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 β-thalassemia trait, 10 (0.86%) had δβ-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 β-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.

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.

Effective control of rare diseases requires health programs based on principles of protection and prevention. Carrier screening programs serve as preventive measures by identifying at-risk groups. This review examines the impact, implementation, advantages, and disadvantages of carrier screening, incorporating examples from ten countries: the United States, Canada, the United Kingdom, Israel, China, Australia, Italy, Germany, the Netherlands, and Turkey. Data on carrier screening and related policies were collected from July to November 2022 and presented in a tabular format using a coding system devised by the authors. Variability was observed in the diseases/disorders and populations screened, screening expenses, and government provision across the countries. The number of diseases/disorders examined, ranging from 3 to 47, was determined by committee guidelines, government resources, pilot studies, and national institute resources. Notably, carrier screening programs exhibited greater worldwide inconsistency compared to newborn screening programs. The comparative analysis of developed countries serves to guide emerging nations. To address inequalities at both local and global levels, there is a need to enhance the establishment, development, and implementation of carrier screening programs. Furthermore, cost analyses of screening should be conducted, and adequate funding should be allocated to countries. In conclusion, this review highlights the preventive potential of carrier screening for rare diseases and emphasizes the importance of improving carrier screening programs globally to achieve equitable healthcare outcomes.

Hereditary blood diseases are widespread among the Arab population due to the high rates of consanguineous marriages; research regarding the perception of consanguineous marriage in some countries, such as Qatar, is extremely scarce. Therefore, this study aimed to investigate the prevalence of consanguineous marriage and assess the perception of consanguineous marriage among the Qatari population.
A cross-sectional study used a self-administered questionnaire among 395 Qatari adults aged 18-35 who attended primary healthcare institutions in Qatar. A convenience sampling technique was used to select the study participants. An independent t-test was used to compare the significance of the mean between the two groups with positive and negative perceptions of consanguineous marriage. Categorical data were analyzed for association using the chi-square or Fisher\'s exact test. Finally, a multiple logistic regression analysis was conducted to determine the significant predictors of the positive perception of consanguineous marriage. A significant level was set at p < 0.05.
Approximately 45% of the participants had a positive perception toward consanguineous marriage, and the most common reason stated by those participants was \"habit and traditions.\" The prevalence of consanguineous marriage among married couples was 62.6%, and among those with consanguineous marriage, most were married to first cousins (81.7%). Moreover, compared to the participants with negative perceptions of consanguineous marriage, those with positive ones were significantly older, married, with lower educational levels and higher monthly income levels, did not hear about glucose-6-phosphate dehydrogenase (G6PD) deficiency, did not know what kinds of diseases are being screened in the premarital test, and were married to a relative.
The prevalence of consanguineous marriage is high among the Qatari population, and this requires an immediate need for community-based campaigns to raise public awareness about the problem and its potential impact.

Hemoglobinopathies are one of the most widespread hereditary disorders in Turkey. The present study aimed to determine the prevalence of hemoglobinopathies in the Nigde province of Turkey. This study was conducted with 2013 individuals who applied for the premarital screening, between January 2019 and December 2021. The complete blood count was measured by an automated hematology analyzer. The types of hemoglobin were determined by high-performance liquid chromatography. A total of 2013 individuals including 951 (47.2%) females and 1062 (52.8%) males, were screened within the premarital screening program, and 67 (3.3%) of them were migrants. 53 out of 2013 (2.63%) individuals were identified as β thalassemia carriers, and five of them were migrants including two from Afghanistan, two from Iran, and one from Georgia. HbC was observed in two cases, a couple from Syria (0.1%), HbD in two cases (0.1%), HbE in one case from Thailand (0.05%), HbS-β-thalassemia in one case (0.05%), delta-β thalassemia in one case (0.05%), and unidentified structural variant in one case (0.05%). Moreover, 183 individuals (9.1%) were considered to have iron deficiency, α-thalassemia, or silent β-thalassemia carrier. These results indicate that the province of Nigde is a relatively risky region regarding hemoglobinopathies. Geographic location and immigrant population may have slightly affected the local prevalence of hemoglobinopathies and could be taken into consideration to ensure the effective implementation of the hemoglobinopathy prevention program.

Hemoglobinopathies are the commonest inherited blood disorders and form a serious burden worldwide, affecting communities, patient quality of life and healthcare resources. The Kingdom of Bahrain has issued a law obligating couples to undergo premarital screening to detect those at risk of having children affected with these disorders. The aim of this study was to analyze the marital decisions of couples at risk for hemoglobinopathies and follow up the outcomes.
A retrospective study was conducted on couples at risk for hemoglobinopathies identified during the premarital screening program at local health centers in the Kingdom of Bahrain and referred to the genetics department in the Salmaniya Medical Complex for genetic counselling in 2018-2020.
A total of 189 couples were found to be at risk for hemoglobinopathies, of whom 159 completed the survey. Of these, 107 (67%) decided to proceed with their marriage and 26 couples achieved pregnancy. Out of 24 at-risk pregnancies with known outcome, 83.3% were spontaneous whereas only 16.7% underwent in-vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD). Eight out of 20 infants born to couples after spontaneous conception were affected. A positive attitude toward IVF with PGD was held by 60% of at-risk couples.
Despite undergoing premarital screening and genetic counselling, a large percentage of at-risk couples proceeded with their marriage. Most of them justified their decision due to the availability of advanced methods that aid in the prevention of having an affected child. However, the cost of such intervention was a major barrier for the majority of couples.