1. Application du dépistage génétique étendu à l'assistance médicale à la reproduction : prévention ou eugénisme?
- Author
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Guillén, Juan José, Sánchez, Aurora, López, María Jesús, Blazquez, Anna, Vassena, Rita, and Rodríguez, Amelia
- Abstract
Expanded carrier screening (ECS) is a genetic test which informs us of an individual's carrier status in relation to hundreds of serious genetic diseases and to assess the genetic risk to their future offspring. The genetic diseases studied have an autosomal recessive or X-linked inheritance. They are aimed at healthy individuals, regardless of their family, personal or ethnic background. All human beings are carriers of pathogenic variants in one or more genes associated with these genetic diseases. It is estimated that about 2-3% of couples in the general population have a pathogenic variant in the same gene and in consequence are at risk of having children affected by a serious genetic disease. Genetic counselling is necessary and, among other things, will inform the patients about the residual reproductive risk. The application of genetic matching in couples or individuals who need gametes donors allows a significant decrease in reproductive genetic risk. [ABSTRACT FROM AUTHOR]
- Published
- 2018
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