Consanguinity is associated with an increased risk of autosomal-recessive conditions. Factors such as low awareness of available services, language barriers, cultural considerations, and variation in how services are offered contribute to reduced rates of perinatal diagnosis and can affect access to a unifying diagnosis and appropriate care. The effects of consanguinity and these health-care barriers can be substantial, including increased perinatal and infant mortality and long-term morbidity.
This correspondence paper highlights the findings of the recent NCMD thematic report Understanding consanguinity-related child deaths, situating them in the broader context and underlining the urgent need to ensure that advances in genomic technologies translate into equitable clinical benefit.
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