Prevalence Of Consanguineous Marriages Research Articles

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.

Perception of consanguineous marriage among the qatari population.

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.

Thalassemia prevention: Religious and cultural barriers to premarital screening in Bangladesh.

Thalassemia prevention: Religious and cultural barriers to premarital screening in Bangladesh.

Prevalence of Consanguineous Marriage among Saudi Citizens of Albaha, a Cross-Sectional Study.

Consanguineous marriage (CM) is a prevalent kind of relationship in Muslim and Arab countries, and this type of relationship is linked to several health risks. This study was conducted to determine the prevalence of (CM), its associated hereditary diseases, and health-related issues among Saudi citizens in Albaha. This cross-sectional study was conducted between March 2021 to April 2021. Saudi citizens in Albaha who were aged ≥ 18 years and willing to participate were eligible for the study. A total of 1010 participants were included in this study. In total, 757 participants were married, widowed, or divorced. CM partnerships comprised 40% (N = 302) of the marriages among participants, of which first- and second-cousin marriages comprised 72% and 28%, respectively. The prevalence of CM among the participants' parents was lower than that among the participants (31% versus 40%, respectively). Children of participants in a CM were more likely to have cardiovascular diseases (p < 0.001), blood diseases (anaemia, thalassemia) (p < 0.001), cancer (p = 0.046), hearing loss and speech disorder (p = 0.003), and ophthalmic diseases (p = 0.037). Albaha showed a high percentage of consanguinity. An educational program must be established to enhance the population's knowledge of the consequences of CM. The current national premarital screening program should be extended to involve more screening tests for common hereditary diseases that result from CM.

Determining the changes in the prevalence of consanguineous marriages and resistant Groups in Turkey: Analyses by marriage cohorts from the 2018 Turkish Demographic and Health Survey

Amaç: Akraba evlilikleri, özellikle bebek ölümlerine ve genetik hastalıklara olan olumsuz etkileri bakımından önemli bir halk sağlığı sorunu olarak görülmektedir. Türkiye’de son 50 yılda akraba evliliklerinin oranının, %27 seviyesinden sadece %11’lik bir azalma ile ancak %24 seviyesine gerilemiş olması akraba evliliklerinin dirençli yapısına işaret etmektedir. TNSA- 2018 sonuçlarının kullanıldığıbu çalışmanın üç temel amacı bulunmaktadır: (1) Akraba evliliği yaygınlığının zaman içindeki değişimini belirlemek, (2) Bu dönemdeki akrabalı yetiştirme katsayısının değişimini ortaya koyarak akraba evliliklerinin iç yapısınında meydana gelen değişimi anlamak, (3) Akraba evliliklerinin sosyodemografik belirleyicilerini ortaya koyarak dirençli sosyo-demografik grupları belirlemek.Yöntem: Çalışmada, 1993 öncesi dönemden başlanarak 2014-2018 dönemine kadar oluşturulan evlilik kuşağı değişkeninin yanı sıra, çalışmanın hem betimsel hem de çok değişkenli analiz bölümlerinde, kadınların birçok özelliği de dikkate alınmaktadır.Bulgular: Çalışmanın sonuçlarına evlilik kuşakları temelinde bakıldığında, 1993 ve öncesinde evlenen kadınlar arasında %40 olan akraba evliliği oranının 2014-2018 döneminde evlenen kadınlar arasında, %60 azalarak, %16’ya gerilediği görülmektedir. Yine bu dönemde, akrabalı yetiştirme katsayısı, 0.018’den 0.006’ya gerilemiştir. Bu durum, Türkiye’de zaman içinde birinci kuzenler arasındakievliliklerin oranının, aynı dönemde, %85’ten %46’ya gerilemiş olmasıyla ilişkilidir.Sonuç: Çalışmada kullanılan lojistik regresyon analizlerinin sonuçları, eğitimsiz kadınların, çalışmayan veya sosyal güvenliği olmadan çalışan kadınların, anadili Kürtçe veya Arapça olan kadınların, yoksul kadınların, ebeveynleri akraba evliliği yapmış olan kadınların, çocukluğunu Doğu’da ve kırsal alanlarda yaşayan kadınların akraba evliliği yapma riskinin daha yüksek olduğunu, dolayısı ile bu grupların akraba evliliği olgusunun dirençli kalmasına katkıda bulunmaya devam ettiği görülmektedir.

Correlates and reproductive consequences of consanguinity in six Egyptian governorates.

This study aimed to explore some correlates and potential reproductive consequences of consanguinity. We analysed data for 8515 ever-married women aged 15-49 derived from a household survey conducted in 2017 in six governorates. The prevalence of consanguineous marriage was 35.9%. The odds (OR (95%CI)) of consanguinity were higher in rural southern governorates (3.68 (3.03-4.46)), with less than secondary education (1.55 (1.42-1.7)), with unemployment (1.74(1.48-2.04)) and in the lowest wealth quintile (3.09 (2.66-3.6)). After adjusting for residence, education, wealth, age at marriage and the number of children; the OR (95%CI) for spontaneous abortion and still births with consanguinity were 1.31 (1.09-1.59) and 1.63 (1.18-2.25) respectively. Consanguinity remains highly prevalent in Egypt especially in rural southern governorates. Women empowerment in terms of attaining higher education and employment may reduce the problem. Consanguinity appears to be associated with adverse reproductive outcomes including spontaneous abortion and still birth.

Consanguineous Marriages and Dental Anomalies: A Cross-Sectional Analytical Study.

Objective To determine the correlation between consanguineous marriages and dental anomalies. Study Design. A cross-sectional analytical study. Materials and Methods This cross-sectional analytical multicentered study was carried out at Foundation University College of Dentistry after approval of the Ethical Research Committee (ERC) from September 2021 to November 2021 in Pakistan. All pediatric patients (4–10 years old) with dental malformations undergoing dental procedures or examinations and born with spontaneous vaginal delivery and uncomplicated cesarean section participated in the study. First, second, and third-degree relatives' marriages of parents were used to define consanguinity. The Basic Pay Scale was the reference of estimation of socioeconomic status. Participants with a history of orofacial trauma, pertinent parental history (infertility, hormonal treatment, or infectious diseases during pregnancy, conception with assisted reproductive techniques, prolonged complicated labor, premature deliveries, and twin births), and prolonged hospital admission immediately after birth were excluded from the study. Results The mean maternal and paternal age was recorded to be 23.86 ± 5.4 and 27.07 ± 9.6, respectively, whereas the mean age of participants was 6.60 ± 1.67. There were 297 children with congenital abnormalities, with 203 (68.4%) males and 94 (31.6%) females. The prevalence of consanguineous marriage was found to be in 210 (70.7%) participants. Congenital dental anomalies correlation was found to be significant with consanguineous marriages (p value <0.001). Consanguineous marriages were more frequent in the lower socioeconomic group when compared with the middle and upper socioeconomic groups, respectively (74.7% vs. 8.1% vs. 17.2%, p value 0.007). Conclusion Congenital dental anomalies were significantly prevalent in consanguineous marriages with greater incidence in lower socioeconomic groups. Consanguineous marriages have the propensity to transmute population conformation, but due to religious and social beliefs, literature is hesitant to ascribe congenital dental anomalies persuasive relevance with consanguinity.

Inborn Errors of Metabolism Referrals- Shahid Sadoughi Hospital: A Cross- Sectional Study

Background: Inborn Errors of Metabolism (IEMs) are a group of heterogeneous disorders resulting from absent or decreased metabolic pathway activity. They are typically rare, but are more common in consanguineous population.&#x0D; Methods: In this cross sectional study, all children with symptoms suspicious for IEMs who referred to Shahid Sadoughi Hospital in Yazd during a 5-year period (2013-2018) were investigated for metabolic diseases. The diagnoses were further confirmed by clinical symptoms and biochemical analysis. IEMs type, age of diagnosis, family history and disease outcome were recorded.&#x0D; Results: In this study, 39 symptomatic children with a median age of 48 months were diagnosed with different types of metabolic diseases. About 64.1% of the patients were born from consanguineous marriage. The patients’ mean age at the time of diagnosis was 25.3 ± 5.1 months. The most frequent disorders were organic acidemias which were found in 12 patients (30.8%), lysosomal storage disorders which were found in 8 patients (20.5%), and amino acid disorders excluding phenylketonuria which was found in 8 patients (20.5%). Most of the patients (60%) were diagnosed before the age of 6 months. Mortality from metabolic disorders was 5 (12.8%). The rest of the patients (22 cases, 56.4 %) had developmental delay.&#x0D; Conclusion: It was found that the prevalence of inherited metabolic disorders was higher in countries with a high prevalence of consanguineous marriage, such as Iran. More extensive newborn screening is needed for ensuring early diagnosis of these patients given that delay in diagnosis of this disorder may be associated with high morbidity and mortality.

Sitagliptin: A promising DPP-4 inhibitor for prevention of acute graft versus host disease.

Madam, allogeneic hematopoietic stem cell transplant (HSCT) remains a life altering cure to exceptionally challenging diseases ranging from hematologic malignancies to primary immunodeficiencies and blood cancers. One of its adversities includes graft versus host disease (GVHD), a lethal immunologically mediated condition wherein the donor's T-cells attack the host's tissues. The presentation can be classified as acute or chronic. Acute GVHD is divided into four grades. Despite current prophylaxis, including a combination of calcineurin inhibitor with either methotrexate or sirolimus, the incidence of grade-II or higher GVHD is between 30% to 80%, with grade-IV GVHD approaching mortality rates up to 90%.1 A recent phase II trial by Farag et al. addresses the issue by introducing a novel combination of sitagliptin – a specific DPP-4 inhibitor used to manage type 2 diabetes in adults – along with tacrolimus and sirolimus for prevention of GVHD.2 Using the new blend, an overall marked reduction in the risks of grade-II to IV (5%) and grade-III to IV (3%) acute GVHD was shown, compared to previous studies using only sirolimus and tacrolimus.3 Moreover, no adverse effects were associated with the drug during the period of study. Advancements in the field of HSCTs are particularly crucial in developing countries such as Pakistan. The high prevalence of consanguineous marriages and insufficient genetic counselling make the country especially vulnerable to diseases like thalassemia, bone marrow failure syndromes and immunodeficiency states. Up to 9000 children require transplantation each year due to the high prevalence of beta- thalassemia major.4 The situation is further complicated by limited resources and few stem cell transplant centres, which are limited to major cities. Although HSCT efficiently treats numerous life-threatening conditions, only 719 patients underwent HSCT till mid-2017 cumulatively in Pakistan.4 In accordance with the aforementioned factors, the number of transplants performed heavily outnumbers their demand, making it essential to tackle a complication as deadly as acute GVHD. In a 2005 study conducted in Rawalpindi by Hashmi et al., the overall incidence of acute GVHD grade-II to IV after standard immunosuppressive therapy was 44.2%.5 While the results were comparable to other studies, the high f morbidity and mortality rates necessitates alternate treatment courses. Sitagliptin, a locally manufactured, cost-effective drug, will be an appropriate choice of medication in Pakistan where average income amounts to a meagre US$1000 per year.4 However, randomized trials are needed to further investigate its role in the prevention of acute GVHD. Continue....

Consanguinity and Increased Risk of Congenital Ptosis: A Case-Control Study from Southern Iran.

To assess consanguinity as a probable risk factor for congenital ptosis. In this case-control study, 97 patients with congenital ptosis and 97 participants as the control group were included. The age, sex, and residence area of the control group were matched with the cases. The inbreeding coefficient (F) was calculated for each participant, and the mean of the inbreeding coefficient (α) was calculated for each group. The prevalence of consanguineous marriage in parents of cases with congenital ptosis and those of the control group was 54.6% and 30.9%, respectively (P < 0.002). The mean of the inbreeding coefficient (α) in patients with ptosis was 0.026, whereas it was 0.016 in the control group (T = 2.51, degree of freedom = 192, P = 0.0129). The rate of consanguineous marriage was significantly higher among the parents of patients with congenital ptosis. It implies a probable recessive pattern in the etiology of congenital ptosis.

Consanguinity: A Form of Social Capital Among the Muslims of Char Areas in Barpeta District, Assam

Information on the dynamics of consanguinity is always important for public health strategy. It provides a direct roadmap for healthcare providers and health policymakers to make people aware of the consequences of consanguinity. The present study aims to investigate the attitude of the Muslim people practising consanguinity in the char (river island) areas of Barpeta district in Assam. It intends to seek a cultural explanation behind the practice of consanguinity. The study was conducted cross-sectionally among the Muslims living in different villages of the temporary, semi-permanent and permanent river islands of Barpeta district in Assam. A total of 556 married couples were included in the study. Of these, 103 couples are consanguineous and the rest 453 are non-consanguineous. To study the prevalence of congenital disorders, a sample of 153 males and 121 female inbred children of the consanguineous couples and 701 male and 571 female children of the non-consanguineous parents have been included in the study. The prevalence of consanguineous marriage in the chars was found to be 18.53% and the average coefficient of inbreeding was 0.05996796. Of the consanguineous marriages, the most favoured type was between the first cousins (63.11%), followed by half first-cousin marriages (12.62%). Altogether 14.60% of inbred were found to have some type of congenital disorder against 0.31% non-inbred. In the chars of Barpeta, it is not only ignorance but poor economic condition is also a reason behind the practise of consanguinity. Consanguineous marriage provides means of escaping the expenditure incurred in dowry or bridewealth payment. With seasonal floods, river erodes their village and crops completely every year. Family remains the sole source of stability and security. Consanguineous marriage therefore forms a sort of social capital as they are a source of secured and stable married life in the most hostile ecological settings where these people are living. Social security is of utmost priority behind these marriages in the char.

Consanguineous marriage and its relevance to divorce, polygyny and survival of marriage: evidence from a population-based analysis in Jordan

Background Consanguinity has been extensively studied in the context of its negative health outcomes for offspring and socio-demographic factors, but little evidence-based research has been done on its potential social benefits. Aim To examine the association between consanguineous marriage and the risk of divorce or separation, polygyny, and survival of marriage in Jordan. Subjects and methods Data were obtained from the 2018 Jordan Population and Family Health Survey, covering a nationally representative sample of ever-married women of reproductive age. Descriptive statistics, multiple logistic regression, and survival analysis techniques were used for data analysis. Results The prevalence of consanguineous marriage was found to be 27.5% in Jordan in 2018, while the prevalences of polygyny and divorced/separated rates were 4.4% and 4.7%, respectively. Both consanguineous and polygyny rates showed declining trends, but divorce/separation rate showed an increasing trend. Compared to non-consanguineous marriages, the risk of divorce/separation and polygyny were found to be lower among women with consanguineous marriage, while the survival of marriages was found to be higher for consanguineous marriages than for non-consanguineous marriages. Conclusions Findings revealed that consanguinity has some social benefits as it plays protective roles against divorce or separation, polygyny and enhances the survival of marriages.

Education and Consanguineous Marriage

At least one of every five marriages is consanguineous (between couples who are second cousins or closer) in the Middle East and North Africa, and the rate is higher than 50 percent in some parts of the world. Consanguineous marriage generates serious health problems for the offspring and constitutes an economic problem with its associated medical costs and the impact on human capital. The prevalence of consanguineous marriage and the resultant kinship networks can shape various dimensions of the society ranging from institutional structure to attitudes such as trust, individualism, and nepotism. Using data from Turkey and leveraging an education reform which increased mandatory schooling by three years, we find that the reform made women less likely to find consanguineous marriage as an acceptable practice, and that the reform reduced women’s propensity to marry a first cousin or a blood relative. Exposure to the reform altered women’s preferences in favor of personal autonomy. Women who are exposed to the reform are more likely to have met their husbands outside of family networks, they are less likely to get forced into marriage against their consent, and they are less likely to agree that only a son can ensure the continuation of the family blood line. These results indicate that educational attainment can alter behaviors and attitudes which may be rooted in culture.

Prevalence and determinants of consanguineous marriage and its types in India: evidence from the National Family Health Survey, 2015-2016.

The aim of the present study was to estimate the prevalence and examine the determinants of consanguineous marriage types in India. Data for 456,646 ever-married women aged 15-49 years were analysed from the National Family Health Survey (NFHS)-4 conducted in 2015-16. The overall prevalence of consanguineous marriage was 9.9%; the South region (23%) and North-East region (3.1%) showed the highest and lowest prevalences, respectively. Muslims had a higher prevalence (15%) than Hindus (9%). The prevalence of first cousin marriage (8.7%) was more than that of second cousin (0.7%) and of uncle-niece marriages (0.6%). Women living in urban areas and in nuclear families, having a higher level of education and belonging to affluent families were less likely to marry their cousins (p < 0.01). Women living in the South region of the country were more likely to marry their cousins, as well as uncles (p < 0.001). Close scrutiny of the trends in the results (odds ratios) revealed no clear relationship between socioeconomic condition and consanguineous marriage. The study results suggest that religion and north-south regional dichotomy in culture largely determine consanguineous marriage rather than socioeconomic condition in India.

Consanguineous marriage as socio-medical problem

Despite the availability of a large amount of scientific data on the negative impact of consanguineous marriages on the health of children born in such families, the significance of this problem is not decreasing in a number of countries.&#x0D; Aim. Analysis of the modern scientific base on the problem of consanguineous marriages, assessment of their impact on the development of a particular pathology in children.&#x0D; The article reflects the position of modern clinical recommendations, the results of recent studies, and some controversial and unresolved issues. Despite the emerging trend of declining consanguineous marriages in recent decades, this problem involves at least 20% of the population and dozens of countries around the world. The prevalence of consanguineous marriages in the world varies significantly, ranging from 0.1-0.4% in the United States and European countries to more than 50% in North Africa, the Middle East and West Asia. The most common form of consanguineous marriage is a marriage between first cousins. In general, rural residents who have a lower level of education are more likely to enter into consanguineous marriages.&#x0D; Conclusion. Despite a number of positive social and economic aspects of consanguineous marriages, from the point of view of genetics and medicine, it is necessary to take into account the negative impact of consanguineous marriages, which consists in an increased genetic risk to offspring and a high incidence of congenital pathology in newborns. An assessment of the socio-demographic aspects of consanguineous marriages shows that their greater prevalence is often due to poor economic conditions, lack of education, and low social security.

The Role of Heredity and the Prevalence of Strabismus in Families with Accommodative, Partial Accommodative, and Infantile Esotropia

Objectives:To investigate the prevalence of strabismus in families of a proband with accommodative, partial accommodative, or infantile esotropia (IET), and to evaluate the mode of inheritance and the role of consanguineous marriages in this prevalence.Materials and Methods:Families of probands with comitant strabismus were invited to participate in the study. The family members of 139 subjects with accommodative esotropia (AET), 55 with partial accommodative esotropia (PAET), and 21 with IET agreed to participate. Detailed family trees were constructed. The first- and second-degree relatives were invited for a complete ophthalmological examination, and 518 individuals from 168 families were evaluated. The role of consanguinity, the presence of tropia, phoria (≥8 PD), microtropia, and hypermetropia (≥3.00 D) among first- and second-degree relatives were analyzed.Results:A non-Mendelian pattern was found in 49 families (23%), an autosomal dominant pattern in 39 families (18%), and an autosomal recessive pattern in 6 families (3%). The prevalence of consanguineous marriages among parents of probands was 18.1%, 22.6%, and 14.3% in the AET, PAET, and IET groups, respectively (p=0.652). The prevalence of strabismus in first-degree relatives was 58.9%, 45.5%, and 38.1%, respectively (p=0.07). The prevalence of microtropia in probands’ siblings was significantly higher in the AET group (p=0.034).Conclusion:Sporadic cases and non-Mendelian inheritance were more frequent than autosomal recessive inheritance. Autosomal recessive inheritance was found not to be frequent in consanguineous marriages. The prevalence of strabismus and microtropia was significantly higher in families of esotropia cases than in the general population.

The Prevalence and Socio-Demographic Correlates of Consanguineous Marriage in the Region of Tanger-Tetouan, Morocco

Introduction: Consanguineous marriage is a fairly common practice in the Tanger-Tetouan region in the north-west of Morocco, however, little is known about its exact prevalence. This study builds on our initial research on the prevalence of consanguineous marriage in this region by examining its prevalence and socio demographic correlates. Method: We gathered data on parental consanguinity and its correlates from a randomly selected sample of 213 university students during the year 2014 using an anonymous questionnaire. Logistical regression was used to study factors associated with consanguineous marriage. Results: We found that the prevalence of consanguineous marriages was 45.3% in the current generation compared to 14.7% and 12.3% respectively for paternal and maternal grandparents in the previous generation, this difference between the two generation is significant, p&lt;0.001. The most common types of consanguineous marriages among the current generation were between first cousins (77.4%), followed by first cousins once removed (8.3%) and second cousins (2.2%), while 12.1% of marriages were between distant relatives. The multivariate analysis showed a strong association between consanguineous marriage and the husband’s early age (OR=0.23; p=0.01); the low education level of the wife (OR=5.72;p=0.02). Having consanguineous parents is a predisposing factor for their children to choose a consanguineous partner at the time of marriage (OR= 21.58; p&lt;0.001) for women and (OR=20.77;p&lt;0.001) for men. Conclusion: We observed a high rate of consanguineous marriages in the population of the Tanger-Tetouan region compared to data from other regions of Morocco and to data from Arab and Muslim countries.

Determining genetic variants in children and adolescents suffering from tetralogy of Fallot with a positive family history: methodology.

Background and aim:Congenital heart disease (CHD) affects close to 1% of all live births and is considered as the main reason for morbidity and mortality in early childhood. In this study, we aimed to investigate molecular genetic factors associated with Tetralogy of Fallot (TOF), using high throughput technologies in the consanguineous families with at least two affected individuals.Method:This family study started from March 2017 to May 2019, in the pediatric cardiovascular research center, Cardiovascular Research Institute, Isfahan, Iran. Families with consanguineous marriage who had at least two patients in pedigree were invited to attend. Genomic DNA was extracted from peripheral blood lymphocytes of the patient and samples were investigated for variations such as deletion or duplication in the genome, using single nucleotide polymorphism array (SNP array). In the next step, if the SNP array was negative, the next generation sequencing (NGS) was performed in the probands. The raw data was analyzed and filtered to identify the genetic cause of the disease.Results:In this study, total five families were evaluated. All affected and unaffected individuals of each family included in the pedigree. Fourteen subjects, 9 males and 5 females, 8.92±6.21 years old were included. The prevalence of consanguineous marriage was 92.2% among parents, 71.4% among maternal grandparents and 28.6% among paternal grandparents. Almost, 64.3% of our participants had a sibling with a similar disease. The prevalence of Atrial Septal Defect (ASD), Ventricular Septal Defect (VSD), and arrhythmia and TOF was 7.1%.Conclusion:We found some families with two or more CHD cases and with high rate of consanguineous marriage, having a genetic predisposition. In the next step, high throughput techniques such as NGS and SNP-array was performed in order to find any genetic variation. Functional study will be done, to confirm and determine the role of the identified variants in the function of genes involved in disease phenotype. (www.actabiomedica.it)

Education and Consanguineous Marriage

At least one of every five marriages is consanguineous (between couples who are second cousins or closer) in the Middle East and North Africa, and the rate is higher than 50 percent in some parts of the world. Consanguineous marriage generates serious health problems for the offspring and constitutes an economic problem with its associated medical costs and the impact on human capital. The prevalence of consanguineous marriage can shape various dimensions of the society ranging from institutional structure to attitudes such as trust, individualism, and nepotism. Using data from Turkey and leveraging an education reform which increased mandatory schooling by three years, we find that the reform made women less likely to find consanguineous marriage as an acceptable practice, and that the reform reduced women’s propensity to marry a first cousin or a blood relative. Exposure to the reform altered women’s preferences in favor of personal autonomy. Women who are exposed to the reform are more likely to have met their husbands outside of family networks, they are less likely to get forced into marriage against their consent, and they are less likely to agree that only a son can ensure the continuation of the family blood line. These results indicate that educational attainment can alter behaviors and attitudes which may be rooted in culture. Institutional subscribers to the NBER working paper series, and residents of developing countries may download this paper without additional charge at www.nber.org.

Has the long-predicted decline in consanguineous marriage in India occurred?

To an extent the question posed in the title of this paper can simply be answered in the affirmative. Based on the extensive data available from the National Family Health Survey-1 (NFHS-1) conducted in 1992-93 and NFHS-4 in 2015-16 there has been a significant overall decline of some 19% in the prevalence of consanguineous marriage in India. However, when examined at state level the picture is more complex, with large reductions in consanguinity in southern states where intra-familial marriage previously has been strongly favoured, whereas in some northern states in which close kin unions traditionally have been proscribed small increases were recorded. In a country such as India, comprising an estimated 18% of the current world population and with multiple ethnic, religious, geographical and social sub-divisions, apparently contrary findings of this nature are not unexpected - especially given the major shifts that are underway in family sizes, in education and employment, and with rapid urbanization. The changing health profile of the population also is an important factor, with non-communicable diseases now responsible for a majority of morbidity and premature mortality in adulthood. The degree to which future alterations in the prevalence and profile of consanguineous marriage occur, and at what rate, is difficult to predict - the more so given the markedly diverse cultural identities that remain extant across the Sub-Continent, and ongoing intra-community endogamy.