What should be the focus of counseling in parental consanguinity: genetic disorders or underlying beliefs

Soheilirad, Zahra

doi:10.1186/s43042-020-0049-7

Cited by 4 publications

(5 citation statements)

References 8 publications

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“…This is consistent with the obtained data, specifically in populations of North Africa, West Asia, and South India, where consanguineous marriages are culturally and socially favored and account for 20 to 50% of partnerships, roughly one-third of all marriages involve first cousins 15 and another retrospective research investigated the characteristics of parental consanguinity in multi-ethnic groups that more than 76% of all consanguineous unions were categorized as first cousins. 16 The vast majority of consanguineous marriages in our society continues to be between first and second cousins. Additionally, consanguinity has been linked to facial clefts and other congenital malformations.…”

Section: Discussionmentioning

confidence: 99%

Analysis of Consanguinity as Risk Factor of Nonsyndromic Cleft Lips with or without Palate

Rochmah,

Harumsari,

Christiono

et al. 2023

Eur J Dent

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Objectives The etiologies of nonsyndromic cleft lips with or without palate (NS CL/P) are multifactorial, which include consanguineous marriages. The incidence of NS CL/P is relatively high in Indonesia notably in one of Indonesia's tribes whose members frequently marry close cousins. Thus, the purpose of this study is to analysis consanguinity as risk factor of NS CL/P in Sasak tribe, East Lombok, Indonesia Materials and Methods An observational analysis was made of a collected database of NS CL/P patients treated in social services in regency hospital of Dr. Soejono Selong, East Lombok, Indonesia. Demographic data such as age, gender, address (urban/rural), parent's education, presence or absence of consanguinity, type of clefts, and a three-generation pedigree were collected by interview and hospital medical record. Before analysis, patient information was anonymized and deidentified. From 2016 to 2018, each of 100 cleft and normal subjects with their Sasak parent were audited. The risk factors were analyzed statistically using odds ratio (OR) and chi-squared test. Results Consanguineous marriages identified 54 cases (54%), and 10 cases (10%) out of a total each 100 NS CL/P and controls, respectively. The majority of consanguinity (53.7%) was discovered in marriages between first cousins. NS CL/P cases were statistically linked (p = 0.00) with consanguineous marriages (OR: 10; 95% confidence interval: 1.6–3.1); in which the most prevalent case is unilateral cleft lips. Conclusion Consanguineous marriage increases the risk of NS CL/P in Sasak tribe, East Lombok, Indonesia. The development of strategies to educate communities on the impacts of culture-consanguineous marriage is required. The genetic inheritance from their ancestor may be responsible for the increased incidence of NS CL/P.

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Section: Discussionmentioning

confidence: 99%

Analysis of Consanguinity as Risk Factor of Nonsyndromic Cleft Lips with or without Palate

Rochmah,

Harumsari,

Christiono

et al. 2023

Eur J Dent

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“…India has a significant collective burden of genetic disorders which can be attributed to a high rate of consanguinity, which is generally observed in approximately 14% marriages according to the National Family Health Survey (NFHS-4) report 2015–16 ( 4 – 6 ). In our cohort, consanguinity was reported by 44% of the total couples seeking PND.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis for Primary Immunodeficiency Disorders—An Overview of the Indian Scenario

et al. 2020

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Prenatal Diagnosis (PND) forms an important part of primary preventive management for families having a child affected with primary immunodeficiency. Although individually sparse, collectively this group of genetic disorders represents a significant burden of disease. This paper discusses the prenatal services available for affected families at various centers across the country and the challenges and ethical considerations associated with genetic counseling. Mutation detection in the index case and analysis of chorionic villous sampling or amniocentesis remain the preferred procedures for PND and phenotypic analysis of cordocentesis sample is reserved for families with well-characterized index case seeking PND in the latter part of the second trimester of pregnancy. A total of 112 families were provided PND services in the last decade and the presence of an affected fetus was confirmed in 32 families. Post-test genetic counseling enabled the affected families to make an informed decision about the current pregnancy.

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“…Aproximadamente el 10% de la población mundial es de origen consanguíneo [1,9,17]. Dependiendo de los antecedentes culturales, legales y religiosos, la prevalencia de la consanguinidad varía en las diferentes regiones, con tasas entre el 20% y el 50% en el Medio Oriente y norte de África, entre el 1% y el 5% en el sur de Europa, América del Sur y Japón, y menos del 1% en Europa Occidental, América del Norte y Oceanía [18] (figura 1). También se han descrito altos niveles de consanguinidad en algunas comunidades cerradas como los amish de los Estados Unidos y los samaritanos de Jordania e Israel [19].…”

Section: Epidemiologíaunclassified

“…Tasas de matrimonios consanguíneos a nivel mundial, donde se incluyen los matrimonios entre primos segundos o parientes más cercanos [1]. La unión consanguínea es uno de los eventos relacionados con la cultura en todo el mundo, particularmente en los países de bajos ingresos [18], e incluso ha sido reportada como la causa más importante de mortalidad asociada a las anomalías congénitas [3]. Varios estudios indican que la prevalencia de anomalías congénitas mayores en países desarrollados es el 2% al 3% y puede llegar hasta un 7% en países en vía de desarrollo [24].…”

Section: Anomalías Congénitas Y Patologías Asociadas a Consanguinidadunclassified

La endogamia como causa de consanguinidad y su asociación con anomalías congénitas

et al. 2020

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El papel de la endogamia como causa de homocigosidad en la salud humana es un foco de interés en genética médica, debido a su relación con anomalías congénitas y patologías genéticas recesivas. Es un tema importante a pesar de que las tasas de uniones consanguíneas en ciertas sociedades han disminuido con el tiempo; sin embargo, en algunas comunidades se han mantenido estables o han aumentado. La consanguinidad es practicada hasta en el 10% de la población mundial, y los motivos más comúnmente citados son socioculturales y socioeconómicos. Aunque se ha visto una disminución de esta práctica, probablemente por la migración urbana y el aumento de las tasas de educación, la consanguinidad continúa practicándose en todo el mundo. Los efectos más significativos sobre los resultados reproductivos se deben, principalmente, a condiciones hereditarias autosómicas recesivas, que también aumentan la frecuencia de algunos desórdenes médicos. El objetivo de esta revisión es dar a conocer la epidemiología y los factores predisponentes de la consanguinidad, así como presentar la evidencia actual de la asociación entre la consanguinidad originada en la endogamia y las anormalidades congénitas y patologías médicas como consecuencia de trastornos genéticos mendelianos. Se requiere un enfoque culturalmente apropiado para el asesoramiento genético en relación con la endogamia.

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What should be the focus of counseling in parental consanguinity: genetic disorders or underlying beliefs

Cited by 4 publications

References 8 publications

Analysis of Consanguinity as Risk Factor of Nonsyndromic Cleft Lips with or without Palate

Analysis of Consanguinity as Risk Factor of Nonsyndromic Cleft Lips with or without Palate

Prenatal Diagnosis for Primary Immunodeficiency Disorders—An Overview of the Indian Scenario

La endogamia como causa de consanguinidad y su asociación con anomalías congénitas

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