Couple screening for recessively inherited disorders. (June 2023)

• Record Type: Journal Article
• Authors: Sisterna, Silvina; Borrell, Antoni
• Is Part Of: Journal of medical screening. Volume 30:Number 2(2023)
• Page Start: 55
• Page End: 61
• Publication Date: 2023-06
• Subjects: couple screening -- genetic counselling -- preconceptional genetic counselling -- prenatal genetic counselling -- monogenic diseases -- autosomal recessive disease; Medical screening -- Periodicals; 362.177
• DOI: 10.1177/09691413221137039
• Languages: English
• ISSNs: 0969-1413

Abstract

Couple screening aims to identify couples with an increased risk of having a child affected with an autosomal recessive or X-linked disorder, in order to facilitate informed reproductive decision making. Both expectant parents should be screened as a single entity, instead of individual testing. Carrier testing was typically performed for a few relatively common recessive disorders associated with significant morbidity, reduced life expectancy and often because of a considerably higher carrier frequency in a specific population for certain diseases. However, new genetic testing technologies enable the expansion of screening to multiple conditions, genes and sequence variants. There are multiple reproductive options for screening couples at risk, particularly when genetic traits are detected in the preconception period.