Article
Rate of manifesting carriers and other unexpected findings on carrier screening.
Prenatal diagnosis - 1 Jan 2023
Clevenger Sydney K, Brandt Justin S, Khan Shama P, Shingala Pranali, Carrick Jillian, Aluwalia Ruchi, Heiman Gary A, Ashkinadze Elena
Abstract excerpt
OBJECTIVES: To ascertain the rate of unexpected findings on carrier screening (CS) and assess whether implications are disclosed to patients. METHODS: We performed a retrospective observational study of subjects who had CS after pre-test counseling from a licensed genetic counselor at a large tertiary care center. We quantified the rate of unexpected finding on CS, defined as manifesting carriers (MCs), genotypes...
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