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The impact of consanguinity on birth outcomes: implications for healthcare and genetic counseling practices in the United States

Ethical Legal Social Issues (ELSI) Public Health and Policy
  • Primary Categories:
    • ElSI Ethics Legal and Social Issues
  • Secondary Categories:
    • ElSI Ethics Legal and Social Issues
Introduction:
Consanguinity, in clinical genetics is known as the relationship between second cousins or closer. This is thought to impact birth outcomes, though many aspects remain unclear. Studies find there is an increased risk of autosomal recessive diseases, potential changes in birth weight and gestational length as well as potential psychosocial outcomes. This practice is common in parts of the world such as the Middle East, South Asia and North Africa but it is less common in the US. However, increasing immigration from these regions is expected to influence healthcare practices and raise new legal and ethical considerations. 

As immigrant populations from these regions grow, clinicians may need to shift their history-taking and counseling. Additionally, there may be legal or ethical implications that should be understood. Despite all these changes, there is a lack of standardized recommendations or guidelines for US healthcare practitioners to support consanguineous couples with family planning. To address this gap, a comprehensive knowledge synthesis or scoping review is necessary to consolidate existing evidence, identify research gaps, and provide a foundation for developing culturally competent and evidence-based clinical guidelines. 

Methods:
We conducted a systematic search of the following databases: ArticlesPlus, Elsevier and PubMed to yield 98, 1785 and 4375 articles, respectively. A total of 6261 articles were uploaded into Covidence for screening where 382 duplicate records were identified and removed. The search was limited to English language publications from 1990-2024, focusing on peer reviewed studies. The articles were screened for relevance to the following themes; rates and prevalence of consanguinity, reasons for this practice, birth outcomes associated with it and recommendations for healthcare practitioners. 

Results:
A total of 11 articles met the eligibility criteria and were deemed appropriate for analysis. Our review found that consanguinity impacts roughly 10% of the world's population. This practice is common across the world but less frequent in Western countries. Consanguinity may be influenced by socioeconomic factors, religion and social customs and immigrant communities in Western countries may maintain consanguineous practices from their country of origin. This presents a need for physicians and other healthcare providers to be aware of this and know how to counsel it.  

Conflicting data exists regarding the overall impact of consanguinity. However, there is consensus on its association with certain birth outcomes such as increasing the risk of autosomal recessive diseases, congenital malformations and inborn errors of metabolism. Some studies have found effects on neonatal mortality and morbidity, but these have been inconsistent. Similarly, the inheritance of multifactorial diseases as well as infectious diseases are inconsistent. There have also been findings of pregnancy wastage, but these are difficult to assess as they may be due to lethal in-utero recessive diseases that may occur more frequently in consanguineous couples. Additionally, recent studies have shown that awareness of consanguinity is particularly relevant in the field of obstetrics. Currently, limited guidance exists for healthcare providers on counselling a consanguineous couple.  

Conclusion:
Although some effects of consanguinity remain unclear, there is general agreement within the scientific community regarding its association with increased risk of autosomal recessive diseases, congenital disease and fetal malformation. To address these risks effectively, standardized guidelines should be developed for geneticists and genetic counselors. These guidelines would provide clear definitions, outline potential impacts, and establish best practices for counseling consanguineous couples, ensuring consistent and culturally sensitive care. Such resources are increasingly important in light of growing migration from regions where consanguinity is more prevalent.

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