Best Practices for Use of Expanded Ge...

Best Practices for Use of Expanded Genetic Carrier Screening: a Q&a with Erica Ramos, MS

Population-based carrier screening Screening for a common genetic cause [of] nonspecific personal or family history of disease The primary goal of all carrier screening is to identify couples who have an increased chance of having a child with a recessive genetic disorder. For autosomal recessive disorders, both parents have to carry a disease-causing variant and both have to pass that variant to the child, resulting in a 25% risk for each pregnancy to be affected.

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