Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review

ABSTRACT: Reproductive genetic carrier screening provides individuals and couples with information regarding their risk of having a child affected by an autosomal recessive or X-linked recessive genetic condition. This information allows them the opportunity to make reproductive decisions in line with their own beliefs and values. Traditionally, carrier screening has been accessed by family members of affected individuals. In recent years, improvements to accessibility and updates to recommendations suggest that all women planning or in early pregnancy should be offered reproductive genetic carrier screening. As uptake moves towards the population scale, how can the genetic counselling needs of such large-scale screening be met? A scoping review of the literature was performed to ascertain what the

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PROVIDER: S-EPMC9605645 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature