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PubMed2004

Association of parental consanguinity with congenital malformations among Arab newborns in Jerusalem.

The aim of this work was to determine the impact of parental consanguinity on congenital malformations in a mixed urban and rural Arab community in Jerusalem, Israel. Arab mothers admitted to four hospitals in west Jerusalem were interviewed after delivery. Demographic and obstetric data were recorded. Neonatal data were extracted from the medical records of the nursery. When malformations were suspected, a 4- to 10-month follow up was achieved for confirming the diagnosis. Of 561 infants, 253 (45%) were born to consanguineous couples. The incidence of major congenital malformations in the offspring was 8.7, 7.1 and 2.6% in cases of first cousins, all consanguineous, and non-consanguineous couples, respectively. No association was found between parental consanguinity and prematurity (p = 0.357) or low birth weight (p = 0.589). Parental consanguinity was also associated with an increased incidence of death in previous siblings (p < 0.000). The increased incidence of congenital malformations and infant mortality in cases of inbreeding prompt the necessity of establishing programs to avoid these complications in the offspring.

Adult↗

PubMed1991

Consanguinity and mental retardation.

Consanguinity among parents as a cause of mental retardation in their children is debatable. The present study was conducted to find out the effect of consanguinity on mental retardation where the causative factor is not established. A total of 517 mentally retarded persons and their families were studied out of which 160 were born of consanguineous marriage and 357 were of non-consanguineous marriage. The results indicated that, when there is a history of mental retardation in the family and if the parents are consanguineously married, the risk of mental retardation in the offspring is significantly high (chi 2 = 11.52; P less than 0.001). Among the consanguineously married families, the blood relationship of uncle-niece seems to have the highest risk of affecting the offsprings. The implications are discussed in detail.

Adolescent↗

PubMed1992

The effect of consanguinity on pregnancy-induced hypertension.

The aetiology of pregnancy induced hypertension (PIH) is unknown. Either an immunological or a genetic disorder are considered likely, with possibly an interaction between the two. If this were true, homozygosity would play an important role. Though consanguinity is believed to play a protective role, the effect of inbreeding on PIH has been inadequately studied. In South India consanguinity is common (26%). We prospectively studied 814 primigravidas of whom 213 had consanguineous marriages. The proportion of women who developed PIH was compared in the 2 groups of women with consanguineous and nonconsanguineous marriages. The odds of a patient with PIH being consanguineous was 1.12 with a 95% confidence interval of 0.72-1.75. Our observations suggest that consanguinity does not influence the incidence of PIH.

Adult↗

PubMed2006

Consanguinity in primary immunodeficiency disorders; the report from Iranian Primary Immunodeficiency Registry.

PROBLEM: Primary Immunodeficiency Disorders (PiD) are a heterogeneous group of genetic disorders, with different modes of inheritance. This study was accomplished in order to determine the frequency of consanguineous marriages in the families of patients with PiD. METHOD: In this study, the records 515 Iranian PiD patients were reviewed during a 25-year period. RESULTS: The mean proportion of consanguineous marriages was 65.6% among PiD patients, while the overall rate was 38.6% in the country. The rate of consanguinity was 77.8% in cellular immunodeficiencies, 75.8% in combined immunodeficiencies, 72.5% in defects of phagocytic function, 58.6% in other immunodefiiencies, 54.1% in predominantly antibody deficiencies, and 50% in complement deficiencies. Moreover all patients with immunodeficiency associated with other diseases had consanguineous parents. Such marriages were most common in the parents of patients with Chediak-Higashi syndrome, severe combined immunodeficiencies, primary CD4 deficiency, ataxia-telangiectasia, selective IgG class deficiencies, chronic granulomatous disease, and Schwachman syndrome. CONCLUSIONS: It is important to inform the general population about the dangers of consanguinity, which is very common in some areas such as Iran. Premarital examination to avoid genetic diseases could be suggested, especially in a community where the rate of consanguineous marriage is high.

Adolescent↗

PubMed1990

Race, consanguinity and social features in Birmingham babies: a basis for prospective study.

STUDY OBJECTIVE: The aim of the study was to investigate the influence of consanguinity on children's health. DESIGN: The study is a prospective survey from birth to five years of a cohort of babies born in a multiracial community. This report details the initial findings on consanguinity. SETTING: Participating families live predominantly in three health districts of Birmingham, and were recruited in three local maternity hospitals. PARTICIPANTS: Babies of 2432 European mothers, 509 Afro-Caribbean mothers, 625 Indian mothers, 956 Pakistani mothers, and 216 Bangladeshi mothers have been enrolled in the study. Eighty mothers refused to participate. MEASUREMENTS AND RESULTS: Sociodemographic information was obtained using a structured questionnaire administered at interview. Interview data were supplemented with obstetric information from the medical records. The highest prevalence of parental consanguinity was in Pakistani Muslims (69%), whereas in Muslims from other countries it was 23%, and it was less than 1% in non-Muslims. In the majority of consanguineous Muslim pedigrees the degree of inbreeding was greater than that for first cousin parents. CONCLUSIONS: This prospective study will allow an assessment to be made about any ill health in childhood arising from parental consanguinity, about whether screening programmes are indicated for particular autosomal recessive diseases, and about whether premarital health education might be beneficial. The study has also documented parental ages in different races and this, together with the levels of parental consanguinity in all races, will be useful in genetic methods for assessing the frequency of recessive genes, the possibility of genetic heterogeneity, and whether or not parental age effect exists for new mutations of specific genetic disorders.

Adolescent↗

PubMed1990

The effect of consanguinity on pregnancy outcome in Saudi Arabia.

A simple random sample of 4498 Saudi pregnant women was analysed to study the effect of consanguinity on pregnancy outcome. The rate of consanguinity was found to be 54.3% which comprised 31.4% of first cousins and 22.9% of other relatives. The average proportion of outcome was higher and over 50% within the consanguinous marriages in all pregnancy outcome except prematurity and low birth weights. In general, more unfavourable outcomes occurred among consanguinous than non-consanguinous marriages. Perinatal, infant and neonatal deaths were the most deleterious outcomes among related marriages with 62%, 60.3% and 57.9% respectively. The differences between total consanguinity and unrelated marriages in the infant and perinatal death categories were significant (P = 0.05).

Consanguinity↗

PubMed1998

Consanguinity, non-disjunction, parental age and Down's syndrome.

The effect of consanguinity on the non-disjunction mechanism in Down's syndrome, was examined in 417 cytogenetically confirmed Down's syndrome patients. The incidence of parental and grandparental consanguinity was 17.5% (n = 73), while that of only parental consanguinity was 17.2% (n = 71). First cousin marriages occurred more frequently, than uncle-niece and 2nd cousin marriages. With regard to parental age, only the mean age difference between consanguineous couples significantly differed from non-consanguineous couples. The inbreeding coefficient did not differ between trisomy 21 and translocation Down's families. From this study, it is concluded that consanguinity does not predispose to Down's syndrome.

Adult↗

PubMed2003

[Consanguinity and congenital abnormalities].

Knowledge of consanguinity is relevant for employees in the Danish national health service, since about 7.5% of the Danish population has another ethnic background than Danish and the majority comes from cultures where consanguineous marriages are not unusual. In the literature it is found that consanguineous couples have a higher risk of having children with congenital malformations. The risk is increased by a factor 2 to 2 1/2. The average risk in Denmark is about 3%. Primarily, the autosomal recessive diseases are expressed in children with consanguineous parents. In order to advise and diagnose it is essential to clarify the consanguinity state. In case of pregnancy with consanguineous parents, we recommend: 1) Counselling to estimate the risk of foetal illness and information about possible examination possibilities. 2) An ultrasound scan at the gestational age of 11-14 weeks in order to measure nuchal translucency and an early malformation scan. 3) An ultrasound scan for malformations at the gestational age of 18-20 weeks. 4) An ultrasound scan especially in order to detect foetal heart malformations at the gestational age of 20-24 weeks.

Chromosome Disorders↗

PubMed1983

Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages.

The frequency of consanguineous marriages up to second-cousin degree has been carefully established in the past for each of the 95 Italian provinces using the Archive of about 500,000 dispensations given by the Catholic church for such marriages over a 55-year period. It has therefore been possible to compare the frequency of consanguineous marriages observed among 83 couples of parents of Friedreich patients with the frequency of consanguineous marriages of the same degree in the different Italian provinces during the same years. From these data, an estimate of the incidence of the disease has been obtained for the whole nation (between 1/22,000 and 1/25,000). In Southern Italy, where 16 out of the 18 consanguineous marriages among Friedreich parents are concentrated, the incidence of the disease is similar (between 1/25,000 and 1/28,000). This study indicates that the Archive of consanguinity existing in Italy allows a reliable comparison of the frequency of consanguineous marriages among parents of patients with that of the general population. The same method can therefore be applied to the study of incidence of other autosomal recessive disorders in Italy.

Adult↗

PubMed1994

[Consanguinity and public health in Morocco].

This study concerns the evolution of consanguinity in Morocco in its historical, religious, legal, and sociological context with regards to Moroccan customs and undertakes to evaluate its relationship to public health. Thus it attempts to specify if consanguinity, in its present state in Morocco, poses a problem for public health. With this goal in mind, methodology has been concentrated on two approaches. The first, based upon examination of documents and oral research interviews, has made theoretical assessment possible. The second, substantiated by the study of notarial marriage acts and the analysis of 4773 medical files concerning consanguineous marriages compiled throughout the seven regions of Morocco, has enabled us to specify the importance and the evolution of consanguinity and its impact on health. This study shows a marked decrease in consanguineous unions predominantly found in rural and mountainous zones and frequent between first cousins, especially the paternal cousin. From the medical standpoint, our study has revealed the absence of pathology in 97.13% of cases studied, the transmission of various gifts in 1.08% and that of degenerative traits in 1.79% of the descendants. Consequently, in our country, a country in perpetual evolution and in contact with the outside world, consanguinity which is disappearing of its own accord does not present a preoccupying problem for public health. Its future would seem to be limited to the relation between the physician and marriage partners in search of genetic counsel.

Consanguinity↗

PubMed1996

Demographic characteristics of the Israeli Arab community in connection with consanguinity.

In a previous nationwide survey of the Israeli Arab community we showed that 44% of all marriages are consanguineous. Further analysis of the data from this previous survey was undertaken, and we defined six demographic characteristics that may be associated with consanguinity or non-consanguinity in the marriages. Of these, we found a significant correlation (P <0.001) with religion (for Moslems, odds ratio 1.7), consanguinity in parents' marriages, and the respondent's attitude towards consanguineous marriage. The educational level achieved was not a major factor in the type of marriage chosen. These findings should enable us to plan specifically designed educational and counseling programs with a view to reducing the overall incidence of consanguineous marriage.

Adult↗

PubMed2001

Has consanguinity any impact on occurrence of pre-eclampsia and eclampsia?

In this study we tested the hypothesis of an association between consanguinity and pre-eclampsia/eclampsia. This is a case-control study conducted at Princess Badea Teaching Hospital, Irbid-Jordan during the period May 1997-April 1998. The study population were Jordanian women delivered at Princess Badea Teaching Hospital with or without hypertensive disorders of pregnancy. The total number was 208 pre-eclamptic/eclamptic women (76 primiparous and 132 multiparous) and 618 randomly selected non-hypertensive women. In primiparous as well as multiparous women, it was evident that neither consanguinity nor the degree of the relationship to the husband in consanguineous marriages had an impact on the incidence of preeclampsia/eclampsia. However, comparing the incidence of consanguinity between pre-eclamptic/eclamptic and non-hypertensive, multiparous women married to a relative other than first cousin, the P value was 0.0248, which we explained as chance incidence. When we compared the incidence of consanguineous marriages as a whole between pre-eclamptic/eclamptic and non-hypertensive, multiparous women, there was no evidence of any impact of consanguinity on the incidence of pre-eclampsia/eclampsia.

Journal Article↗

PubMed1986

Perception of consanguineous marriages and their genetic effects among a sample of couples from Beirut.

We interviewed 100 women who had married a relative and 100 other women of the same age, religious affiliation, and socioeconomic status, but who were not related to their husbands. Both women were selected from a hospital setting in Beirut, and were questioned about their outlook on consanguineous marriages, their awareness of the genetic consequences of consanguinity, and their relationships with in-laws. In general, the women in consanguineous marriages were more favorably inclined than the matched women to marriages between relatives; however, about half of each group would advise their son/daughter to marry his/her cousin. Awareness of the genetic consequences of consanguinity was wide-spread among the respondents, although the women who had married a relative were reluctant to express it. These women also reported better relationships with in-laws, which may be considered as a social benefit derived from consanguineous marriages. Based on the above findings, recommendations are made regarding the content of a public health educational program.

Adult↗

PubMed1989

Wisconsin consanguinity studies. II: Familial adenocarcinomatosis.

Predisposition to carcinoma in certain families has been recognized as an autosomal dominant trait. We describe a large pedigree (over 1,000 persons) including ten consanguineous unions with inbreeding coefficients from 0.02 to 0.17. Persons of consanguineous parentage accounted for 16 of 18 cases of adenocarcinoma (most of which were colorectal). Three women with breast cancer were relatives but not of consanguineous parentage. Only six of 36 persons with a malignancy of any kind were unrelated spouses, and only one of these had adenocarcinoma. Multiple primary carcinomas and/or early age-of-onset were observed only in products of consanguinity. In this extended family, the occurrence of adenocarcinoma appears to segregate as an autosomal recessive trait. It is conceivable that a proto-oncogene is segregating in this family and that, in some members, consanguineous unions have produced homozygosity for this oncogene.

Adenocarcinoma↗

PubMed2026

Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum.

PURPOSE: To determine the molecular diagnostic yield, variant spectrum, inheritance architecture, and influence of consanguinity on whole-exome sequencing outcomes in a South Indian retinitis pigmentosa (RP) cohort. DESIGN: Prospective, registry-based cohort study. SUBJECTS: A total of 113 affected participants were enrolled through the Aravind Registry for Inherited Diseases of the Eye, including 109 unrelated probands and 4 affected relatives from already represented families. Primary analyses were restricted to the 109 unrelated probands. METHODS: Whole-exome sequencing was performed using a clinical exome workflow. Variants were interpreted using American College of Medical Genetics and Genomics/Association for Molecular Pathology criteria and cases were categorized as solved, possibly solved, inconclusive, or unsolved using prespecified inheritance-aware rules. MAIN OUTCOME MEASURES: Molecular diagnostic yield, distribution of implicated genes and variant classes, inheritance architecture, and diagnostic yield stratified by consanguinity status. RESULTS: Among the 109 unrelated probands, mean age at testing was 39.3 ± 14.1 years and 58.7% were male. Whole-exome sequencing identified 186 distinct rare variants across 92 inherited retinal disease genes, including 26 pathogenic and 33 likely pathogenic variants. A molecular diagnosis was established in 50 of 109 probands (45.9%), including 42 solved and 8 possibly solved cases; 45 (41.3%) were inconclusive and 14 (12.8%) remained unsolved, including 4 (3.7%) in whom no candidate variant was identified. EYS, USH2A, and ADGRV1 were the most frequently implicated genes. Autosomal recessive (AR) disease predominated (44/50, 88.0%). Consanguineous AR cases were exclusively homozygous (17/17); notably, 68.0% of nonconsanguineous AR cases were also homozygous (P = 0.013). Diagnostic yield was higher in consanguineous probands (51.4% vs. 41.7%), without reaching significance. Recurrent alleles included an established South Asian founder variant (MFSD8 c.1361T>C) and candidate founder alleles in EYS (c.4321C>T) and ADGRV1 (c.14329C>T). CONCLUSIONS: Whole-exome sequencing established a molecular diagnosis in nearly half of this South Indian RP cohort and revealed a predominantly recessive, homozygosity-enriched architecture shaped by consanguinity. These findings define a region-specific variant landscape to support clinical interpretation, genetic counseling, and future trial enrollment in this underrepresented population. FINANCIAL DISCLOSURES: The authors have no proprietary or commercial interest in any materials discussed in this article.

Consanguinity↗

PubMed1998

Consanguinity and the age of menopause in the United Arab Emirates.

OBJECTIVE: The study examined the association between some biosocial factors, consanguinity and age at natural menopause in the United Arab Emirates (UAE). METHOD: A cross-sectional population-based study using a multi-stage sampling design and face-to-face interview. RESULTS: In a sample of 800 UAE females aged 40 years and above, there were 742 (85.8%) respondents. The median age of natural menopause was 48 years. The bodyweight, parity number, occupation, smoking habits and consanguinity in marriage were the significant variables associated with the age at natural menopause. There were statistically significant differences between women in consanguineous and non-consanguineous marriages with regard to BMI (P < 0.002), occupation (P < 0.008), weight (P < 0.0001), age (P < 0.03), age of menopause (P < 0.005), parity (P < 0.0001), mother's age at menopause (P < 0.007) and sister's age at menopause (P < 0.002). CONCLUSION: The study showed that among UAE women, consanguinity of marriage, maternal and sister's age at menopause, BMI, parity number and smoking habits significantly influence the natural age of menopause.

Age of Onset↗

PubMed2001

Trends in consanguinity in South India.

This study uses data from the 1992-93 National Family Health Survey to assess trends in consanguinity in the South Indian states of Andhra Pradesh, Karnataka, Kerala and Tamil Nadu. In Kerala, the frequency of consanguineous marriages is very low and one type of preferred marriage of the Dravidian marriage system uncle niece marriage--is conspicuously absent. In the other states of South India, consanguinity and the coefficient of inbreeding are high. While no change in consanguinity is observed during the past three to four decades in Karnataka, a definite decline is observed in Andhra Pradesh and Tamil Nadu. Due to recent changes in the demographic and social situation in these states, this decline in consanguinity is likely to continue.

Adolescent↗

PubMed2003

The prevalence and correlates of consanguineous marriages in Yemen: similarities and contrasts with other Arab countries.

Using data on 9762 women from the 1997 Yemen Demographic and Maternal and Child Health Survey, this paper examines the prevalence and socioeconomic correlates of consanguineous marriages in Yemen. The results indicate that 40% of marriages are consanguineous, over 85% of which are between first cousins. The prevalence of consanguineous marriages appears to have increased over time, particularly for the last marriage cohort. As for socioeconomic correlates, the study confirms the inverse association between consanguineous marriages and women's education and occupation, age at marriage and economic status. However, no statistically significant difference in the prevalence of consanguinity has been found by place of residence and geographical region. Somewhat unexpected results have been obtained by husband's background characteristics, with higher educated men and those working in the modern sector of the economy being more likely to be married to cousins.

Adolescent↗