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Expanded carrier screening for monogenic disorders: where are we now?

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Expanded carrier screening (ECS), which can identify carriers of a large number of recessive disorders in the general population, has grown in popularity and is now widely accessible to prospective… Click to show full abstract

Expanded carrier screening (ECS), which can identify carriers of a large number of recessive disorders in the general population, has grown in popularity and is now widely accessible to prospective parents. This article presents a comprehensive overview of the characteristics of currently available ECS tests.

Keywords: carrier screening; screening monogenic; monogenic disorders; expanded carrier

Journal Title: Prenatal Diagnosis
Year Published: 2018

Link to full text (if available)


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