Prevalence Of Consanguinity Research Articles

Modelling the constraints on consanguineous marriage when fertility declines

BACKGROUND Consanguinity - or marriage between close blood relatives, in particular first cousins - is widely practised and even socially encouraged in many countries. However, in the face of fertility transition where the number of cousins eligible to marry declines, how might such constraints on consanguinity develop in the future? OBJECTIVE Numerous studies have stated that the practice cannot continue at present levels and in its present form in the face of fertility transition. However, the future impact of fertility transition on availability of cousins to marry has not yet been quantified. METHODS We perform a simulation exercise using past and projected net reproduction rates (NRRs) derived from the UN. We calculate the average number of cousins of the opposite sex as a function of the average number of children, the average probability of an individual having at least one eligible paternal cousin of the opposite sex, and conclude with an examination of constraints on consanguineous marriage in selected countries under different fertility assumptions. RESULTS Current and projected fertility levels in Middle Eastern countries will create challenging constraints on the custom once today's birth cohorts reach marriageable age. CONCLUSIONS Either consanguinity prevalence will diminish significantly, or the institution will be forced to adapt by becoming more coercive in the face of reduced choice or at the expense of other social preferences (such as for an older groom wedding a younger bride). Fertility decline affects prospects for social change not only through its well-known consequences for mothers but also through shaping marriage conditions for the next generation.

Consanguineous Marriage, Reproductive Behaviour and Postnatal Mortality in Contemporary Iran

Objectives: The aims of the study were to determine the prevalence, types and socio-economic correlates of consanguineous marriages in Iran, and to gauge the extent to which consanguinity influenced fertility, pregnancy outcomes and the expression of genetic disorders in the present-day population. Methods: Data on the prevalence of consanguinity and birth outcomes in the first marriages of 5,515 women were abstracted from the 2005 Iran Low Fertility Study [Hosseini-Chavoshi et al: Fertility and Contraceptive Use Dynamics in Iran: Special Focus on Low Fertility Regions. Canberra, Australian National University, 2007]. The results of associated socio-economic variables were collated and assessed by Pearson's χ² analysis and logistic regression. Results: Overall, 37.4% of the marriages were consanguineous (α = 0.0149), but with major differences between 4 representative populations. Consanguinity was higher among rural couples, older marriage cohorts, women marrying at a younger age, and women with lower levels of formal education. In general, consanguineous couples had higher mean numbers of pregnancies, live births and surviving children. Conclusions: Given declining family sizes, a rapid urbanization and increased educational and employment opportunities, it seems inevitable that consanguineous marriages will decline in prevalence in Iran, albeit more slowly in more traditional rural communities. Predictably, there will be a concomitant reduction in the incidence of recessive genetic disorders, but this is against a background transition from communicable to non-communicable diseases.

Study on Short Term Outcome of intrahepatic Infantile Cholestasis

Background: Outcome of infantile intrahepatic cholestasis is highly variable. Aim to investigate various factors affecting outcome of infantile cholestasis. Methods: Retrospective study was conducted through data collection of 70 infant’s files who presented with intrahepatic cholestasis. They were divided into two groups according to the fate of jaundice at the end of the first year follow up. Group I: cases with persistent jaundice and group II: cases that were jaundice free by the end of the year. A comparison was done at presentation, 3 and 12 months between the two groups. Results: Group I had a higher mortality and morbidity. Both groups were significantly different regards etiology, onset of jaundice, presentation to medical care, prevalence of consanguinity and pruritus. After 3 month, group I showed significant bigger and firm liver, higher ALT, AST, S.bilirubin. At 1 year, differences in weight, splenic size and S.albumin were found. Conclusion: The predictive parameters of a high risk group of intrahepatic cholestasis at presentation included etiology, age of onset, positive consanguinity and itching, where at 3rd month of follow-up included big firm liver, persistently pale stool, high ALT and AST and at one year included splenomegaly and lower albumin. Abbreviations: IHCintrahepatic cholestasis, BAbile acids, INHidiopathic neonatal hepatitis, CMVcytomegalovirus, IHBDintrahepatic biliary ducts, PFIC-progressive familial intrahepatic cholestasis. Key Wards: Alagille syndrome, infantile cholestasis, PFIC,

Mental health issues of Maria I of Portugal and her sisters: the contributions of the Willis family to the development of psychiatry

Contemporary accounts credit Dr Francis Willis (1718-1807) with facilitating the recovery of King George III from his major episode of acute mania in 1788-9. Subsequently Willis was summoned to Lisbon to advise on the mental health problems of Queen Maria I. This article reports the nature of the illnesses of Maria and her two similarly affected sisters, and uses the program OPCRIT to propose diagnoses of major depressive disorders. The high prevalence of consanguinity and insanity among the Portuguese monarchy and their antecedents probably contributed to their mental health problems. The successive contributions of the Willis family from Thomas Willis (1621-75) to his grand-nephew, Francis Willis (1792-1859), are reviewed; the popular image is somewhat inaccurate and does not highlight their part in the development of psychiatry.

Imaging of disorder of sex development

BACKGROUND AND OBJECTIVESDisorders of sex development (DSDs), formerly termed ambiguous genitalia, are a group of conditions where the external genitalia appear abnormal. It represents a true medical and social emergency that needs a multidisciplinary team approach for elucidation. The pediatric radiologist plays an important role in defining the genital anatomy that remains one of the most important factors in sex determination, in addition to chromosomal analysis.DESIGN AND SETTINGSA retrospective study, conducted between January 1995 and December 2010.MATERIALS AND METHODSImaging studies (ultrasound, genitogram, and/or magnetic resonance imaging) were performed in patients with ambiguous genitalia, confirmed by chromosomal analysis and appropriate hormonal investigations.RESULTSThe sensitivity of ultrasound is 89.5%, while its specificity reaches 100%. Retrograde genitogram is more invasive and less sensitive, as the yield of determining the presence of a uterus ± vagina is 84.2%. However, magnetic resonance imaging (MRI) is more sensitive for gonadal tissue identification. Its specificity reaches up to 100% and can provide detailed internal structures (uterus, fallopian tubes, and gonads).CONCLUSIONUltrasound examination is still the main modality of choice for screening patients with ambiguous genitalia. It is cheap and readily available everywhere. In addition to elucidating the uterus in 89.5%, it can also give more information on the adrenal glands. However, genitography is good—84.2% in elucidating genital anatomy—but it gives no information of the gonads and it is time consuming and invasive. MRI is helpful in cases with equivocal ultrasound, reaches 100% in elucidating internal extractor, and therefore could be reserved for that.

Consanguinity and Inflammatory Bowel Diseases

The aim of the present study was to investigate the relation between consanguinity and inflammatory bowel diseases (IBD). Review of the medical records of children with a final diagnosis of IBD to determine age, sex, and type of IBD, supplemented by information on consanguinity and family history (FH) of IBD in relatives. There were 138 children, ages 1.4 to 19.3 years, and 50% were girls. The prevalence of consanguinity was 50%, 53%, 39% and 60% in IBD, Crohn disease (CD), ulcerative colitis (UC), and controls, respectively. There was a significantly higher prevalence of consanguinity in controls than in patients with IBD and UC (P = 0.02 and 0.026, respectively), whereas the difference between CD patients and controls was not significant (P = 0.20). The prevalence of first cousin consanguinity was 71%, 73.2%, 61.5% and 70.5% in patients with IBD, CD, UC, and controls, respectively, indicating no significant difference between these conditions and controls (P = 0.95, P = 0.78, P = 0.33, respectively). There was no significant difference in the prevalence of consanguinity in the parents of children with or without a FH of either CD (P = 0.89) or UC (P = 0.32). There is no significant relation between parental consanguinity and IBD in this population, especially when there is no FH of disease, suggesting reduced genetic susceptibility; however, further studies including larger sample size and details of FH of consanguinity and IBD in multiple generations are needed for further definitions of the role of consanguinity.

PREVALENCE OF CONSANGUINEOUS MARRIAGES IN WEST AND SOUTH OF AFGHANISTAN

The prevalence of consanguinity in eight provinces of Afghanistan has recently been reported by Saify & Saadat (2012). The present cross-sectional study was done in order to illustrate the prevalence and types of consanguineous marriages among other populations of Afghanistan. Data on types of marriages were collected using a simple questionnaire. The total number of couples in this study was 5200 from the following provinces: Farah, Ghazni, Herat, Hilmand, Kabul, Kandahar, Logar, Parwan and Wardak. Consanguineous marriages were classified by the degree of relationship between couples: double first cousins, first cousins, first cousins once removed, second cousins and beyond second cousins. The coefficient of inbreeding (F) was calculated for each couple and the mean coefficient of inbreeding (α) estimated for each population. The α in the country was 0.0226, ranging from 0.0203 in Farah province to 0.0246 in Herat province. There were significant differences between provinces for frequencies of different types of marriages (p<0.001). First cousin marriages (21.7%) were the most common type of consanguineous marriages, followed by second cousins (16.0%), first cousins once removed (14.0%), beyond second cousins (6.9%) and double first cousins (1.6%). There was significant difference between ethnic groups for the types of marriages (p<0.001). Tajiks (Soni) and Sadats showed the lowest (α=0.0215) and highest (α=0.0242) levels of consanguinity among ethnic groups in Afghanistan, respectively. The present study shows that the Afghani populations, the same as other Islamic populations, have high levels of consanguinity.

Major Histocompatibility Complex Class II Deficiency in Kuwait: Clinical Manifestations, Immunological Findings and Molecular Profile

Major Histocompatibility Complex (MHC) class II deficiency is a combined primary immunodeficiency disease that leads to overwhelming and recurrent infections. It was found to account for 19 % of combined immune deficiency cases in the National Primary Immunodeficiency Disorders Registry in Kuwait, a country with high prevalence of consanguinity. We present the clinical, immunologic and molecular features of 11 Kuwaiti patients who presented with MHC class II deficiency between 2004 and 2011.

Prenatal genetic counseling and consanguinity

To evaluate the prevalence of consanguineous patients at a Western European prenatal genetic counseling clinic and to describe demographic as well as health-related characteristics of this patient group. Retrospective analysis of 1964 primary consultations at the Prenatal Genetic Counseling Outpatient Clinic at the Medical University of Vienna General Hospital in Austria. Characteristics of consanguineous patients were compared with those of a control group of not-related unions. A total of 8.9% (174/1964) of all patients lived in a consanguineous union, meaning they were related as second cousin or closer [78.7% (137/174) first cousin, 14.4% (25/174) second cousin, 6.3% (11/174) first cousin once removed or 0.6% (1/174) uncle/niece]. Consanguineous patients were significantly younger (26.6 ± 5.4 vs 30.4 ± 6.5, p < 0.01) and of non-Austrian background [92.5% (161/174) vs 32.8% (57/174), p < 0.01] than not-related controls. Forty-six per cent (80/174) were referred during an ongoing pregnancy. The main counseling issue was family history of consanguinity (ICD Z84.3) in 31.6% (55/174) of cases. Estimations of the prevalence of consanguinity among the general population in Western Europe likely highly underestimate the evaluated prevalence among patients referred for prenatal genetic counseling. Counseling strategies need to take into consideration that consanguineous patients are more likely to be young and have an immigrant background.

Trends and Prevalence of Consanguineous Marriages in Mudaliars of Palakkad District of the State of Kerala

The prevalence, pattern, socio-economic correlates and temporal trends in consanguinity among Mudaliar, a Hindu Backward Community of Palakkad District of Kerala were studied by conducting survey and structured interview on 412 randomly selected families. Consanguineous marriages are found to be 31.6% of all the marriages contracted with a mean coefficient of inbreeding, F= 0.0235. First cousin marriages are found to be the predominant type (15.8%), followed by uncle-niece type (6.6%) and second cousin marriages (5.8%). Relationship between consanguinity and region of residence of the couples was found conspicuously higher in rural areas relative to urban areas. The relationship between consanguinity and educational status of women showed a nega tive association. A consistently declining trend in consanguinity from older to younger generation is not evident among the Mudaliar, which contradicts the general trends prevailing in most populations of the world. It is suggested that propensity to marry a relative has not changed much over time among this immigrant community of Kerala. Their strong belief in following the Dravidian culture and traditions, together with socio-economic and ed ucational backwardness acting hand in hand may be the reason for the high prevalence of consanguinity among them.

Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait

Deficiency of dedicator of cytokinesis 8 (DOCK8) is a newly described combined primary immunodeficiency disease. It was found to account for 15% of combined immune deficiency cases in the National Primary Immunodeficiency Disorders Registry in Kuwait, a country with high prevalence of consanguinity. We present the clinical, immunologic and molecular characteristics of 9 Kuwaiti patients with DOCK8 deficiency and discuss differences that distinguish DOCK8 deficiency from atopic dermatitis. Clinical immunologists in areas with high incidence of consanguinity should have a high index of suspicion of DOCK8 deficiency in children with recalcitrant eczema, recurrent non-cutaneous infections and lymphopenia.

Correlating clinical manifestations with factor levels in rare bleeding disorders: a report from Southern India

Data on the clinical manifestations of patients with clotting factor defects other than Haemophilia A, B and von Willebrand disease are limited because of their rarity. Due to their autosomal recessive nature of inheritance, these diseases are more common in areas where there is higher prevalence of consanguinity. There is no previous large series reported from southern India where consanguinity is common. Our aim was to analyze clinical manifestations of patients with rare bleeding disorders and correlate their bleeding symptoms with corresponding factor level. Data were collected in a standardized format from our centre over three decades on 281 patients who were diagnosed with rare bleeding disorders (fibrinogen, prothrombin, factor V (FV), FVII, FX, FXI, FXIII and combined FV or FVIII deficiency). Patients with liver dysfunction or those on medications which can affect factor level were excluded. All patients with <50% factor levels were included in this analysis. Patients were analysed for their salient clinical manifestations and it was correlated with their factor levels. The data shows that FXIII deficiency is the commonest and FXI deficiency is the rarest in Southern India. There was no significant difference in bleeding symptoms among those who were < or >1% factor coagulant activities among all disorders, except for few symptoms in FVII and FX deficiency. An international collaborative study is essential to find out the best way of classifying severity in patients with rare bleeding disorders.

HNPCC

Hereditary nonpolyposis colorectal cancer (HNPCC) is the most common form of hereditary bowel cancer. Multiple generations are affected with colorectal cancer at relatively young age, between 25 and 45 years. Objective: To investigate the frequency of HNPCC in Pakistani population, due to the high incidence of colorectal cancer in younger Pakistani adults and prevalence of consanguinity in this region conducted this study. Period: November 2008 and January 2010. Methodology: Ninty histopathologically confirmed colorectal cancer patients between 12- 50 years and their families were interviewed using a detailed questionaire. The questions about family history of colorectal cancer, history of other cancers, age at diagnosis and consanguinity were asked. The pedigrees were drawn for all families based on given information. Hospital records were also reviewed to confirm cancers reported in relatives. Amsterdam criteria was used to label a family as HNPCC. Results: Seventeen patients (18.9%) had one or more first or second degree relatives under age 50 years with colorectal cancers suggestive of HNPCC. Another 15 patients (16.7%) had first or second degree relatives with a family history of other extra-colonic cancers including ovarian, breast, endometrium, lung, parotid, brain and bladder cancer. Of these 30 patients (33.3%) reported that their parents were first degree cousins. Conclusions: 1. High frequency of HNPCC is seen in Pakistani population. 2. Higher proportion of colorectal cancer is seen in young Pakistanis. Strong prevalence of consanguineous marriages could be important factors for HNPCC occurrence in Pakistan. Future studies with large sample size along with genetic testing and screening programmes are warranted.

Why is infant mortality higher in pakistani families?

ObjectiveTo analyse associations of ethnicity and consanguinity with causes of infant death.DesignRetrospective population based study of all infant deaths in a health district in a year.MethodsWe obtained a list of...

Association between consanguineous marriages and risk of pre-eclampsia

The objective of this hospital-based case-control study was to assess the association between consanguinity and risk of pre-eclampsia in Shiraz (Fars Province, southern Iran) where the rate of consanguinity is relatively high. A total of 171 healthy pregnant women and 140 pre-eclamptic women were included. The healthy control group was frequency matched with the age of the pre-eclamptic women. Control women had no history of pregnancies with pre-eclampsia. The prevalence of consanguinity was 42.8 and 30.9% in cases and controls, respectively. In univariate analysis, the mean inbreeding coefficient for cases (α = 0.0218) was higher than that of controls (α = 0.0174), denoting a significant difference (p = 0.02). When family history was entered as a covariate in multivariate analysis, adjusted odds ratios (OR) revealed that the first cousin once removed (OR = 4.11, 95% CI 1.32-12.7, p = 0.014) increased the risk of pre-eclampsia, in comparison with unrelated marriages. Consanguinity in terms of first cousin once removed seems to be associated with pre-eclampsia after controlling for maternal age and family history of pre-eclampsia. Further investigations adjusting for other confounding factors are needed to confirm this information.

Consanguinity and increased risk for schizophrenia in Egypt

BackgroundConsanguinity has been suggested as a risk factor for psychoses in some Middle Eastern countries, but adequate control data are unavailable. Our recent studies in Egypt have shown elevated parental consanguinity rates among patients with bipolar I disorder (BP1), compared with controls. We have now extended our analyses to schizophrenia (SZ) in the same population. MethodsA case–control study was conducted at Mansoura University Hospital, Mansoura, Egypt (SZ, n=75; controls, n=126, and their available parents). The prevalence of consanguinity was estimated from family history data (‘self report’), followed by DNA analysis using short tandem repeat polymorphisms (STRPs, n=63) (‘DNA-based’ rates). ResultsSelf-reported consanguinity was significantly elevated among the patients (SZ: 46.6%, controls: 19.8%, OR 3.53, 95% CI 1.88, 6.64; p=0.000058, 1 d.f.). These differences were confirmed using DNA-based estimates for coefficients of inbreeding (inbreeding coefficients as means±standard error, cases: 0.058±0.007, controls: 0.022±0.003). ConclusionsConsanguinity rates are signifcantly elevated among Egyptian SZ patients in the Nile delta region. The associations are similar to those observed with BP1 in our earlier study. If replicated, the substantial risk associated with consanguinity raises public health concerns. They may also pave the way for gene mapping studies.

CONSANGUINITY IN QATAR: KNOWLEDGE, ATTITUDE AND PRACTICE IN A POPULATION BORN BETWEEN 1946 AND 1991

From March 2007 to March 2008 a cross-sectional study was conducted in Qatar to estimate the prevalence of consanguinity among Qataris and to assess their knowledge of the risks and their attitudes towards the practice. A secondary objective was to test the acceptability of sixteen Likert-style questions within the Qatari population. Face-to-face interviews using a 70-item structured questionnaire were conducted by three native Arabic-speaking medical students with 362 Qatari employees. Where consanguinity existed between the employee's parents, a diagram of the consanguinal relationship (phylogram) was completed. The response rate was 93%. By phylogram, 22% of participants reported a cousin relationship between their parents (consanguinal relationship) and another 15% reported that their parents were from the same tribe (affinal relationship). With respect to their own marital decision, 68% of the respondents had been married at least once. By phylogram, 35% of these reported a consanguineous relationship (first marriage), 9% reported only an affinal relationship and 56% reported that they were not married to a blood relative. Results on the sixteen Likert-style attitude questions were stratified by consanguinity status of parents and of self. In the stratification by consanguinity status of parents the top five attitudes differed by group but there appeared to be more similarity between the consanguinal and only tribal groups. Attitudinal results were stratified by sex. Results showed that the males had a stronger belief in several of the attitudes than females with the exception of causation of genetic abnormalities and health problems. The phylogram was shown to collect more detailed and explicit data than hard-coding. With respect to knowledge, the results showed that knowledge was imperfect with high proportions of participants not knowing that consanguinity has been implicated in autosomal recessive diseases such as thalassaemia, inborn errors of metabolism, deafness, anomalies of the extremities and specific congenital heart defects. Additionally, a sizeable proportion of the participants did not know that a more distant cousin marriage (e.g. third cousin) theoretically could be a less genetically risky choice to potential offspring than a closer cousin marriage (half-first cousin). These results indicate that more effort needs to be made in developing public health strategies to improve the population's understanding of the cost-benefit analysis involved in contracting consanguineous marriages given the goal of healthy offspring.

CONSANGUINEOUS MARRIAGES IN MOROCCO AND THE CONSEQUENCE FOR THE INCIDENCE OF AUTOSOMAL RECESSIVE DISORDERS

Consanguineous marriage is traditionally common throughout Arab countries. This leads to an increased birth prevalence of infants with recessive disorders, congenital malformations, morbidity and mortality. The aim of this study was to evaluate the rate of consanguineous marriage in families with autosomal recessive diseases, and to compare it with the average rate of consanguinity in the Moroccan population. The study was conducted in the Department of Medical Genetics in Rabat on 176 families with autosomal recessive diseases diagnosed and confirmed by clinical, radiological, enzymatic or molecular investigations. The rate of consanguinity was also studied in 852 families who had infants with trisomy 21 confirmed by karyotyping. These families were chosen because: (i) there is no association between trisomy 21 and consanguinity, (ii) these cases are referred from different regions of Morocco and (iii) they concern all social statuses. Among 176 families with autosomal recessive disorders, consanguineous marriages comprised 59.09% of all marriages. The prevalence of consanguinity in Morocco was found to be 15.25% with a mean inbreeding coefficient of 0.0065. The differences in the rates of consanguineous marriages were highly significant when comparing the general population and couples with offspring affected by autosomal recessive conditions. These results place Morocco among the countries in the world with high rates of consanguinity. Autosomal recessive disorders are strongly associated with consanguinity. This study better defines the health risks associated with consanguinity for the development of genetic educational guidelines targeted at the public and the health sector.

CONSANGUINITY IN LEBANON: PREVALENCE, DISTRIBUTION AND DETERMINANTS

The union of individuals with a common ancestor may lead to serious health consequences in their offspring. Consanguinity is high in Middle Eastern communities; it was around 26% in 1988. The objective of this study was to determine the prevalence of consanguinity in Beirut and other Lebanese regions, and its associated factors in different subgroups. The cross-sectional study was performed on a convenience sample of married women in Lebanon. The women were administered a standardized questionnaire in a face-to-face interview by independent enquirers. Among 1556 women, the overall prevalence of consanguineous marriages was 35.5%, and the consanguinity coefficient was 0.020; 968 marriages (62.2%) were not consanguineous, 492 (31.6%) were first cousin, 61 (3.9%) were second cousin and 36 (2.3%) had lower degrees of consanguinity. Beirut suburb dwelling, low education subgroups, women working in the home and non-Christian religion presented the highest rates of consanguinity (p<0.05). Consanguinity is associated with couples' nulliparity and child chronic morbidity. Factors that could affect consanguinity are having consanguineous parents, having a favourable opinion towards consanguinity, choosing a spouse for religious reasons, particularly in Islam, woman having a low education, woman working in the home and women thinking that consanguinity would not lead to serious diseases. Consanguinity is therefore still a prevailing problem in Lebanon. Specific health education, and genetic counselling in particular, are suggested to explain the consequences of consanguinity to the general population and to help couples make informed choices.

Decrease in consanguinity among parents of children born in Norway to women of Pakistani origin: A registry-based study

To describe the prevalence of consanguinity among Norwegian Pakistani parents in the period from 1995 to 2005. All first births to women of Pakistani origin in 1995-2005 (n = 1962) were identified by linking the Medical Birth Registry of Norway with information on country of origin and country of birth from Statistics Norway. Prevalence ratios (PRs) and prevalence differences were calculated by multiple binomial regression analyses with adjustment for maternal age and education. Women born in Pakistan who gave birth in Norway in 1995-97 formed the reference group. The proportion of women who were consanguineously related to their co-parent decreased from 45.5% in 1995-97 to 27.3% in 2002-2005 among those who were born in Pakistan, and from 48.3% to 18.8% among women of Pakistani origin who were born in Norway. The proportion of women who were related to their co-parent as first cousin decreased from 37.7% to 24.7% among women born in Pakistan, and from 43.3% to 16.7% among women of Pakistani origin who were born in Norway. The proportion of births to women with an unrelated co-parent increased by 25% for women born in Pakistan (PR = 1.25, 95% confidence interval (CI) = 1.12-1.39), and by 53% for women of Pakistani origin born in Norway (PR = 1.53, 95% CI = 1.35-1.74). In contrast to previous reports from the UK, our analysis suggests that there is a decrease in the proportion of consanguineously related parents of children born to women of Pakistani origin in Norway.