Expanded Carrier Screening: Current Evidence and Future Directions in the Era of Population Genomics

Abstract excerpt

Expanded carrier screening (ECS) has emerged as a cornerstone of reproductive genetics, enabling the identification of couples at risk of transmitting autosomal recessive and X-linked disorders. Advances in next-generation sequencing and the increasing adoption of exome- and genome-based strategies have greatly expanded its clinical scope. However, despite existing national and international recommendations,...

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