Consanguineous marriage and associated diseases among their children and grandchildren in India: evidence from large-scale data.

Worldwide, more than 130 million infants are born each year and a considerable number of 13.5 million of these children have inbred parents. The present study aimed to investigate the association between parents' consanguinity and chronic illness among their children and grandchildren in India. The nationally representative data, Longitudinal Aging Study in India, 2017-2018, Wave 1 was used for the present study. Bivariate analysis, a probit model, and propensity score estimation were employed to conduct the study. The study observed the highest prevalence of consanguinity marriage in the state of Andhra Pradesh (28%) and the lowest in Kerala (5%) among the south Indian States. People who lived in rural areas, belonged to the richer wealth quintile and Hindu religion were the significant predictors of consanguinity marriage in India. For individuals who were in consanguineous marriages, there was 0.85%, 0.84%, 1.57% 0.43%, 0.34%, and 0.14% chances of their children and grandchildren developing psychotic disorders, heart disease, hypertension stroke, cancer, and diabetes, respectively. Moreover, around 4.55% of the individuals have a history of birth defects or congenital disorders. To address the risk of complicated illnesses due to the consanguinity of marriage, medical, genetic, and social counselling services are required.

Cohort profile update: Tehran cardiometabolic genetic study.

The Tehran cardiometabolic genetic study (TCGS) is a large population-based cohort study that conducts periodic follow-ups. TCGS has created a comprehensive database comprising 20,367 participants born between 1911 and 2015 selected from four main ongoing studies in a family-based longitudinal framework. The study's primary goal is to identify the potential targets for prevention and intervention for non-communicable diseases that may develop in mid-life and late life. TCGS cohort focuses on cardiovascular, endocrine, metabolic abnormalities, cancers, and some inherited diseases. Since 2017, the TCGS cohort has augmented by encoding all health-related complications, including hospitalization outcomes and self-reports according to ICD11 coding, and verifying consanguineous marriage using genetic markers. This research provides an update on the rationale and design of the study, summarizes its findings, and outlines the objectives for precision medicine.

Urinary stone disease in Syrian children.

BACKGROUND: Pediatric urinary stone disease (USD) is a costly medical problem. This study aims to assess the clinical characteristics and outcomes of common and rare causes of pediatric USD. METHODS: A retrospective descriptive cohort study included all children < 13 years of age with confirmed USD admitted to the Children's University Hospital in Damascus, Syria, from January 2013 to December 2019. The study sample was divided into two groups based on etiologies: common and rare causes groups. RESULTS: We evaluated 235 patients; 147 of them were males, and the male-to-female ratio was 1.7:1. The common causes group consisted of 203 patients (mean age 3.52 ± 3.66 years) and mainly included metabolic disorders (45.5%) and anatomical abnormalities (22.3%), while the rare causes group included 32 cases (mean age 4.93 ± 4.08 years), 12 patients with uric acid stones (37.5%), 7 patients with cystinuria (21.9%), and primary hyperoxaluria in 5 patients (15.6%). In addition, 39.6% of study patients were born to consanguineous marriages. Sixty-two patients developed AKI, and eleven patients had chronic kidney disease (CKD). Patients with rare causes were more likely to have AKI, CKD, bilateral stones, and recurrent stones (P-value < 0.05). Stone analysis was performed on 83 patients, and the main stone types were calcium oxalate (34.9%), uric acid (14.4%), and struvite stones (12%). Surgery was the most performed treatment in 101 patients (56.7%). CONCLUSION: Patients with rare causes of pediatric USD are at a higher risk for severe complications and require early diagnosis and management. The high rate of uric acid stones in our society requires further evaluation for possible underlying causes. A higher resolution version of the Graphical abstract is available as Supplementary information.

Exome sequencing reveals novel rare variants in Iranian familial multiple sclerosis: The importance of POLD2 in the disease pathogenesis.

The prevalence of familial multiple sclerosis (FMS) is increasing worldwide which endorses the heritability of the disease. Given that many genome variations are ethnicity-specific and consanguineous marriage could affect genetic diseases, hereditary disease gene analysis among FMS patients from Iran, a country with high rates of parental consanguinity, could be highly effective in finding mutations underlying disease pathogenesis. To examine rare genetic mutations, we selected three Iranian FMS cases with ≥3 MS patients in more than one generation and performed whole exome sequencing. We identified a homozygous rare missense variant in POLD2 (p. Arg141Cys; rs372336011). Molecular dynamics analysis showed reduced polar dehydration energy and conformational changes in POLD2 mutant. Further, we found a heterozygote rare missense variant in NBFP1 (p. Gly487Asp; rs778806175). Our study revealed the possible role of novel rare variants in FMS. Molecular dynamic simulation provided the initial evidence of the structural changes behind POLD2 mutant.

Implications of VEGF gene sequence variations and its expression in recurrent pregnancy loss.

RESEARCH QUESTION: What is the association between VEGF gene sequence variants and its mRNA expression in recurrent pregnancy loss (RPL)? Vascular endothelial growth factor (VEGF) has a prominent role in pregnancy and affects pregnancy outcome. The association of VEGF gene 1154G>A, 634G>C and 583C>T polymorphic variations with cases of RPL and full-term fertile women as controls was investigated. DESIGN: Two hundred women with RPL and 240 women healthy controls were included. The restriction fragment length polymorphism method was used for genotyping and quantitative real-time polymerase chain reaction was used for analysis of mRNA expression. RESULTS: In VEGF 1154G>A, significant differences were found in homozygous AA genotype between case and control participants. The variant allele A frequency was significantly more abundant in RPL cases (0.41) than controls (0.19) (P < 0.0001). Only RPL cases with the multi-generation family history of miscarriages and those without any history showed significant differences of combined genotype GA+AA (P < 0.0001). In VEGF 634 G>C, CC genotype and allele C showed significantly increased frequency in RPL cases compared with healthy controls (P < 0.0001). The association between VEGF-1154 G>A SNP and VEGF-A mRNA expression levels was significant in RPL cases (P = 0.004). Also in VEGF-583 C>T, CT genotypes were seen significantly associated with cases (P = 0.003). The heterozygous genotype GA was significantly (P = 0.03) associated with upregulation and downregulation of VEGF mRNA, whereas the homozygous variant genotype AA only leads to low expression levels of VEGF mRNA in patients with RPL. CONCLUSIONS: All the variants of VEGF play a vital role in an increased susceptibility to RPL. Also, VEGF-1154, AA genotypes are associated with its altered low mRNA expression in women with RPL and seem to affect pregnancy outcome.

Change in the Prevalence and Determinants of Consanguineous Marriages in India Between National Family and Health Surveys of 1992-1993 and 2015-2016.

This study aimed to determine the changing prevalence of consanguineous marriage in India between two national-level surveys. The primary hypothesis was whether region of residence and religious affiliation continue to play a significant role in determining consanguineous marriage even after controlling other potentially significant confounding variables. Data from the 81,781 and 85,851 ever-married women during the National Family and Health Surveys (NFHS) survey periods 1992-1993 (NFHS-1) and 2015-2016 (NFHS-4), respectively, were used in the analysis. Multinomial and binary logistic regression analyses examined determinants of consanguineous marriage types and of paternal and maternal first-cousin marriages, respectively. In both analyses a systematic model-building procedure was adopted. Altogether, four models were estimated. In the final model (model 4) of both the analyses, all respondent background characteristics (region of residence, religious affiliation, sociodemographic, household wealth) and years of survey were included. Although the overall prevalence of consanguineous marriage in India declined significantly (16%), it was not uniform across respondent background characteristics. The northern region of India (154%) showed a significant increase in consanguineous marriage, whereas eastern (31%), central (2.3%), northeastern (40%), and southern (8%) regions showed a significant decline. Significant declines in consanguineous marriage were found for Hindus (16%) and Muslims (29%); for Muslims of eastern (48%), central (29%), western (31%), and southern (27%) regions; and for Hindus in the western region (37%). Relative risk ratios estimated using multinomial logistic regression models suggest those living in the southern region show 9.55 (p < 0.001), 5.96 (p < 0.001), and 38.16 (p < 0.001) times more likelihood in the prevalence of first-cousin, second-cousin, and uncle-niece marriages, respectively, compared to the northern region after controlling all other confounding variables. Muslims also showed 3.76 (p < 0.001) and 2.91 (p < 0.001) times more likelihood in first-cousin and second-cousin marriages, respectively, compared to Hindus. Adjusted odds ratios (AORs) estimated using binary logistic regression models suggest those living in southern and northeastern regions were 1.25 (p < 0.001) and 1.36 (p < 0.05) times more likely, respectively, to marry a maternal first cousin compared to the northern region. The AOR estimates also show that Muslims were 1.11 (p < 0.01) times more likely to marry a maternal first cousin compared to Hindus. The authors conclude that, despite significant development in the socioeconomic condition of India during the postglobalization era (beginning in 1992-1993), region of residence and religious affiliation continue to play significant role in determining consanguineous marriage.

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 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.

Unveiling Charles II, the last King of the Habsburg Spanish Empire, in a portrait by Juan Carreño de Miranda (1685).

PURPOSE: Charles II (1661-1700) was the last King of the Habsburg dynasty. He was physically and mentally disabled and died at just 39 years old. Here, the authors attempt to investigate the correlations between his signs and symptoms and the physical appearance on the painting. METHODS: Charles II has been portraited by Juan Carreño de Miranda in a painting that may provide precious information about his premature death. RESULTS: It has been suggested that inbreeding beside other endocrinological disorders were of the major causes responsible for illness and ultimately his death. CONCLUSION: Possible endocrinological diseases have been hypothesized.

Consanguineous marriage and its effect on reproductive behavior and uptake of prenatal screening.

The study aimed to determine the prevalence of consanguinity among pregnant women, its effect on reproductive behavior and the uptake of prenatal screening. The sample consisted of 842 pregnant women recruited to a prospective cohort study conducted in twenty-three cities from different regions in Turkey between June 2017 and March 2018. Of the women, 17.7% (n = 149) were in consanguineous marriages. The consanguineous couples were younger at the time of their marriages than non-consanguineous couples, and 49% of the consanguineous marriages were arranged. The educational levels of both spouses in consanguineous marriages were lower than those in non-consanguineous marriages. There was a statistically significant difference in the prevalence of the pregnant women having a prenatal screening test between women in consanguineous marriages (53%) and those in non-consanguineous marriages (78.2%). There were no statistically significant differences between the two groups in terms of having health problems during pregnancy, the number of pregnancies, abortions and/or stillbirths, the week of delivery and the birthweight of the baby. Healthcare providers play a key role in eliciting whether or not pregnant couples are consanguineous, providing a tailored risk assessment, education, and counseling about screening and diagnostic tests for early diagnosis and management of the fetus, explaining the testing process and possible outcomes, and helping couples make informed decisions regarding their reproductive options or pregnancy management.

Esophageal atresia: Associated anomalies, mortality, and morbidity in Jordan.

BACKGROUND: Esophageal atresia is a developmental disorder in which the upper and lower esophagus fail to connect. It has an estimated prevalence of 1 in 2,500-4,500 live births and has poorer outcomes in low- and middle-income countries than in high-income countries. This study focused on the disorder's epidemiology, morbidity, and mortality in Jordan to address the lack of data regarding esophageal atresia in this country. METHODS: This was a retrospective study covering a 16-year period at a tertiary care academic hospital. Data were extracted from archived medical records and operative notes. All patients who had complete congenital esophageal atresia data were included. In total, the records of 55 patients were analyzed. RESULTS: Of the included patients, 9% were diagnosed prenatally and 47% were diagnosed with polyhydramnios. The mean gestational age was 37 weeks, the mean birthweight was 2,550 g, and 60% of patients were male. Isolated cases of esophageal atresia were reported in 58.2% of patients. There was a high rate of associated congenital anomalies (41.8%), with cardiac lesions the most common (20%), and 5.5% were syndromic. Parental consanguinity was found in 18.2% of patients. Postoperative surgical-related morbidities included stricture (18/24; 75%) and leakage (5/24; 20.8%). Fistula recurrence occurred in one patient (4.2%). The mortality rate was 12.8%. CONCLUSION: Esophageal atresia causes a high rate of mortality and exhibits post-operative morbidities. Moreover, associated anomalies were frequently observed. A high level of the malformation was found among offspring from consanguineous marriages.

Prevalence and pattern of consanguineous marriage among educated married individuals in Riyadh.

Consanguineous marriage is preferred in many countries, especially by Muslims. Despite the increasing education rate in Saudi Arabia, the prevalence of consanguineous marriage does not seem to be decreasing as quickly as expected. The present study aimed to investigate the current prevalence of consanguineous marriage among educated married adults in Riyadh and to determine the factors favouring it. The cross-sectional study was conducted in 2017-18 using an online questionnaire. A total of 550 questionnaires were sent to married adults of both sexes and 417 responded, giving a response rate of 75.8%. The questionnaire consisted of two parts: the first section asked for demographic data such as age, sex, educational level, residential area and family size. The second part was about consanguineous marriage and its degree if present, family history of consanguineous marriage and level of awareness of its potential negative impact on offspring. It was found that the prevalence of consanguineous marriage among the participating educated adults was 39.8% and most of these were married to a first cousin. Neither level of education nor age affected the likelihood of consanguineous marriage, but predictors for the practice among the educated participating adults were having a family history of consanguineous marriage, having consanguineous parents and having a personal preference for consanguineous marriage. In conclusion, the prevalence of consanguineous marriage among educated adults in Riyadh was still high in 2018, especially among first-cousin relatives, and this was related to family history and personal preference rather than educational level or age. It is recommended that further research is conducted to assess the level of knowledge about, and attitude towards, consanguineous marriage among adults in Saudi Arabia.

Consanguineous marriages among Andalusian Gitanos/Calé: a genealogical analysis (1925-2006).

Using data from the family and genealogical reconstitutions of the Gitano population of 22 contiguous localities in eastern Andalusia, Spain, this study analysed the intensity, structure and historical evolution of consanguinity in 3056 couples formed from 1925 to 2006. Of these unions, 54.8% were consanguineous, and 28.7% involved relatives up to and including second cousins, resulting in a mean coefficient of inbreeding up to the third degree α3 = 12.4 × 10-3. The rest of the consanguineous unions (26.1% of all) involved more-distant relatives, such as third cousins, fourth cousins and so forth. When all consanguinity degrees found in the genealogical reconstitution were considered, the total mean coefficient of inbreeding was αt = 14.8 × 10-3. The merging of families and pedigrees generated a complex genealogical network with many inbreeding loops and important founder effects. This network revealed a high rate (62%) of Multiple Consanguineous Marriages (MCMs) in which second and subsequent consanguineous ties increased inbreeding levels by a fifth (20.5%). The accumulation of multiple degrees of distant relatedness, many of which had little social or biological importance, has contributed to a significant increase in inbreeding rates. Among Gitano people, intra-family marriages have remained common in the last decades, in sharp contrast to other Spanish populations. Hence the highest rates of close consanguinity (34%) and inbreeding (α3 = 14.6 × 10-3) were found in the 1960s, the decade that saw the onset of Spain's socioeconomic modernization, internationalization and massive migration. These are among the highest rates of inbreeding found in any European population, including the most endogamous Spanish isolates. They reveal marriage strategies not constrained primarily by geographical barriers, but by ethnocultural separation. Interestingly, in recent decades mixed marriages have been increasing rapidly in this minority, although they are compatible with high rates of consanguinity. Gitano secular endogamy is breaking up, but not uniformly.

Diffuse panbronchiolitis: A case report from a Chinese consanguineous marriage family and literature review.

Diffuse panbronchiolitis (DPB) is a chronic diffuse airway inflammatory disease, which is strongly associated with the class I human leukocyte antigen (HLA) alleles. Here, we report a pair of sisters who have been suffering from chronic cough, expectoration and wheezing for many years. They were previously misdiagnosed as chronic bronchitis and bronchial asthma, and were recently diagnosed as diffuse panbronchiolitis. The 36-year-old elder sister suffered from diffuse panbronchiolitis complicated with pulmonary tuberculosis. The 30-year-old younger sister suffered from diffuse panbronchiolitis complicated with bronchial asthma and bronchiectasis. We have performed HLA genotyping research on the two sisters, their parents and younger brother. The results showed that all family members were positive for HLA-A24 and HLA-B13. The younger sister and mother were positive for HLA-A2. The younger brother and father were positive for HLA-A11. We suspect that the two sisters' disease susceptibility may be caused by their parents' consanguineous marriage. In this study, we reported the clinical characteristics of the two sisters with diffuse panbronchiolitis and shared the associated HLA genotyping results of this family cluster, hoping to provide reference for the etiology, diagnosis and treatment of this disease.

A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing.

BACKGROUND: Usher syndrome (USH) is a common heterogeneous retinopathy and a hearing loss (HL) syndrome. However, the gene causing Usher syndrome type IIC (USH2C) in a consanguineous Chinese pedigree is unknown. METHODS: We performed targeted next-generation sequencing analysis and Sanger sequencing to explore the GPR98 mutations in a USH2C pedigree that included a 32-year-old male patient from a consanguineous marriage family. Western blot verified the nonsense mutation. RESULTS: To identify disease-causing gene variants in a consanguineous Chinese pedigree with USH2C, DNA from proband was analyzed using targeted next generation sequencing (NGS). The patient was clinically documented as a possible USH2 by a comprehensive auditory and ophthalmology evaluation. We succeeded in identifying the deleterious, novel, and homologous variant, c.6912dupG (p.Leu2305Valfs*4), in the GPR98 gene (NM_032119.3) that contributes to the progression of USH2C. Variant detected by targeted NGS was then confirmed and co-segregation was conducted by direct Sanger sequencing. Western blot verified losing almost two-thirds of its amino acid residues, including partial Calx-beta, whole EPTP and 7TM-GPCRs at the C-terminus of GPR98. Furthermore, our results highlighted that this p.Leu2305Valfs*4 variant is most likely pathogenic due to a large deletion at the seven-transmembrane G protein-coupled receptors (7TM-GPCRs) domain in GPR98 protein, leading to significantly decreased functionality and complex stability. CONCLUSIONS: These findings characterized the novel disease causativeness variant in GPR98 and broaden mutation spectrums, which could predict the pathogenic progression of patient with USH2C, guide diagnosis and treatment of this disease; and provide genetic counseling and family planning for consanguineous marriage pedigree in developing countries, including China.

The changing pattern and determinants of declining consanguinity in Jordan during 1990-2012.

BACKGROUND: Consanguinity is a deep rooted cultural trait in Jordan. AIM: To examine the patterns and determinants of declining rates of consanguineous marriage in Jordan during 1990-2012 in the context of the changing pattern of socio-economic and demographic conditions. MATERIALS AND METHODS: The data come from the 1990 and 2012 Jordan Population and Family Health Surveys (JPFHSs). A total of 6461 women in 1990 and 11,352 women in 2012 were successfully interviewed. Descriptive and multivariate statistical techniques were used for data analysis. RESULTS: Consanguinity was found to be widely practiced (35% in 2012) until recent times in Jordan. However, there has been a secular declining trend over the last few decades as the practice of consanguinity has declined from 56% in 1990 to 35% in 2012. Increasing age at marriage and female education, higher level of education of husbands, declining family size, increasing rate of urbanisation and female employment, exposure to mass media and higher economic status appeared as significant predictors of declining consanguinity in Jordan. CONCLUSIONS: The findings of this study support Goode's hypothesis of a decrease of consanguinity with modernisation. Although consanguinity is a deeply rooted cultural trend in Jordan, it is gradually losing ground due to modernisation and socio-demographic transition of the country.

Inherited predisposition to breast and ovarian cancer in non-Jewish populations in Israel.

PURPOSE: The contribution of genetic factors to cancer in non-Jewish populations in Israel is understudied. Yet the early, mostly premenopausal age at breast cancer diagnosis is suggestive of an inherited predisposition. METHODS: High-risk cancer cases of non-Jewish origin who were counseled at the Oncogenetics unit, Sheba Medical Center and the oncology institute at the Ziv medical center from January 1, 2000 to December 31 2016 were eligible. DNA extracted from leukocytes was subjected to massive parallel, next-generation sequencing using the Color Genomics platform. Data were analyzed for pathogenic and likely pathogenic mutations using existing pipelines. RESULTS: Overall, 68 cases, each representing a unique high-risk breast/ovarian family, were genotyped: 32 Druze, 26 Muslim Arabs, and 10 Christian Arabs. Fifty-nine had breast cancer (mean age at diagnosis 42.7 ± 7.6 years), and 9 had ovarian cancer (51.6 ± 9.7 years). Overall three pathogenic mutations one each in BRCA1, PALB2, and BRIP1 genes were detected mostly in Druze families. In addition, 29 variants of unknown significance were also detected, and in 36 cases no sequence variants were noted in any of the genotyped genes. CONCLUSION: The contribution of the known cancer susceptibility genes to the burden of inherited breast/ovarian cancer predisposition in non-Jews in Israel is modest. Other genes or molecular mechanisms account for the familial breast/ovarian cancer clustering in this population.

Risk factors for maternal anaemia and low birth weight in pregnant women living in rural India: a prospective cohort study.

OBJECTIVE: The aim of this prospective study was to estimate the prevalence and risk factors for maternal anaemia and low birth weight (LBW) in pregnant women living in Maharashtra state, India. STUDY DESIGN: This is a prospective study. METHODS: Women between 3 and 5 months of pregnancy were recruited from 34 villages based in Maharashtra state. Baseline data collection, anthropometric measurements and blood investigations were performed. Participants were followed-up to record birth weight. RESULTS: In total, 303 women were eligible, and 287 (95%) provided data. 77% were anaemic, defined as haemoglobin less than 11.0 g/dl at the time of recruitment, with a mean corpuscular volume of 80.5 fl/cell (standard deviation: 7.22, range: 53.4-93.8). The increased risk of anaemia was seen in women with consanguineous marriages (odds ratio [OR]: 2.41, 95% confidence interval [CI]: 1.16-5.01, P = 0.01) after adjustment for potential confounding factors. Postdelivery data from full-term singleton live births demonstrated a 7% prevalence of LBW. Consanguineous marriage was a major risk factor for LBW (OR: 4.10, 95% CI: 1.25-13.41, P = 0.02). The presence of maternal anaemia during 3-5 months of pregnancy was associated with lower risk of LBW (unadjusted OR: 0.34, 95% CI: 0.13-0.92, P = 0.03). CONCLUSION: About 30% of our study participants were in a consanguineous marriage, which was identified as a potentially avoidable risk factor for both anaemia and LBW.

Consanguineous marriage in Oman: understanding the community awareness about congenital effects of and attitude towards consanguineous marriage.

BACKGROUND: Although consanguinity is widely practiced in Oman, the attitude of community towards consanguinity and the awareness of its health consequences to offspring remain largely unexplored. AIM: To analyse the levels and trends of consanguineous marriage and examine community awareness about congenital anomaly associated with consanguinity and attitude towards consanguinity in Oman. SUBJECTS AND METHODS: The data come from a nationally representative survey on Omani adults of age 18 years and above, irrespective of their marital status. Data were analysed using both descriptive and multivariate statistical techniques. RESULTS: The survey results indicate a very high rate (49%) of consanguineous marriage in Oman. There is a declining trend in consanguinity which may be attributed to decline in first cousin marriage. Omani adults have moderately high knowledge (69%) about health consequences of consanguineous marriage. There is a high positive attitude towards consanguineous marriage (75%) which appeared as a significant predictor of current practice of consanguineous marriage in Oman. CONCLUSION: The positive attitude of the Omani community towards consanguinity outweighs the negative health consequences of consanguinity, and the practice is likely to remain high in the near future. Strong educational and motivational programmes are needed to bring further changes in attitude towards consanguinity and, thus, reduce the burden of congenital anomalies associated with consanguinity in Oman.

Consanguineous marriage, prepregnancy maternal characteristics and stillbirth risk: a population-based case-control study.

INTRODUCTION: Consanguineous marriage is associated with increased risks for congenital anomalies, low birthweight, and other adverse perinatal outcomes. In this population-based, case-control study we investigated the association between consanguineous marriage (first-cousin marriage) and stillbirth risk, using prospectively collected information from prepregnancy visits. MATERIAL AND METHODS: From 2007 to 2009, we identified 283 stillbirths (cases) and 2088 randomly selected live control births through prepregnancy visits in rural Golestan, Iran. The associations between consanguinity and prepregnancy maternal characteristics and stillbirth risk were examined using multivariate logistic regression. RESULTS: The rate of consanguineous marriage was 19.4% among cases and 13.6% among controls. Consanguinity was associated with increased stillbirth risk [odds ratio (OR) 1.53; 95% CI 1.10-2.14]. The association was significantly increased for preterm stillbirth (< 37 gestational weeks) (OR 2.43; 95% CI 1.46-4.04) but not for term stillbirth (≥ 37 weeks) (OR 1.14; 95% CI 0.75-1.74). Low and high maternal age, underweight, obesity, nulliparity, a history of infertility or miscarriage, previous obstetric complications (preeclampsia, preterm delivery, and stillbirth in previous pregnancies) were also associated with increased stillbirth risks. CONCLUSIONS: Consanguineous marriage is associated with increased risk of stillbirth, particularly preterm stillbirth. Findings for other maternal risk factors for stillbirth in rural Iran are consistent with previously reported findings from high-income countries.