Pregnant Women's Perspectives on Expanded Carrier Screening. Issue 5 (23rd February 2018)

• Record Type: Journal Article
• Authors: Propst, Lauren; Connor, Gwendolyn; Hinton, Megan; Poorvu, Tabitha; Dungan, Jeffrey
• Is Part Of: Journal of genetic counseling. Volume 27:Issue 5(2018)
• Page Start: 1148
• Page End: 1156
• Publication Date: 2018-02-23
• Subjects: Expanded carrier screening -- Universal carrier screening -- Pregnant women -- Carrier screening -- Genetic counseling; Genetic counseling -- Periodicals; 616.042
• DOI: 10.1007/s10897-018-0232-x
• Languages: English
• ISSNs: 1059-7700

Abstract

Abstract: Expanded carrier screening (ECS) is a relatively new carrier screening option that assesses many conditions simultaneously, as opposed to traditional ethnicity‐based carrier screening for a limited number of conditions. This study aimed to explore pregnant women's perspectives on ECS, including reasons for electing or declining and anxiety associated with this decision‐making. A total of 80 pregnant women were surveyed from Northwestern Medicine's Clinical Genetics Division after presenting for aneuploidy screening. Of the 80 participants, 40 elected and 40 declined ECS. Trends regarding reasons for electing or declining ECS include ethnicity, desire for genetic risk information, lack of family history, perceived likelihood of being a carrier, and perceived impact on reproductive decisions. Individuals who declined ECS seemed to prefer ethnicity‐based carrier screening and believed that ECS would increase their anxiety, whereas individuals who elected ECS seemed to prefer more screening and tended to believe that ECS would reduce their anxiety. These findings provide insight on decision‐making with regard to ECS and can help guide interactions that genetic counselors and other healthcare providers have with patients, including assisting patients in the decision‐making process.