Genetic Testing and Counseling · USMLE Step 1

Which of the following types of genetic testing might be discussed during pre-test counseling for a prenatal patient?

  1. Carrier screening, non-invasive prenatal testing, and amniocentesis
  2. Only cancer-related hereditary gene panels for the parents
  3. Pharmacogenomic testing intended for adult medication dosing
  4. Postnatal newborn metabolic screening performed after birth
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Correct answer: Carrier screening, non-invasive prenatal testing, and amniocentesis

Prenatal genetic counseling often addresses carrier screening, non-invasive prenatal tests, or invasive diagnostic tests (e.g. amniocentesis) when there is risk for congenital or inherited disorders.

Difficulty: Medium Question 7 of 20

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