Pregnant Women’s Perspectives on Expanded Carrier Screening

Lauren Propst*, Gwendolyn Connor, Megan Hinton, Tabitha Poorvu, Jeffrey Dungan

*Corresponding author for this work

Research output: Contribution to journalArticle

6 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1148-1156
Number of pages9
JournalJournal of Genetic Counseling
Volume27
Issue number5
DOIs
StatePublished - Sep 1 2018

Keywords

  • Carrier screening
  • Expanded carrier screening
  • Genetic counseling
  • Pregnant women
  • Universal carrier screening

ASJC Scopus subject areas

  • Genetics(clinical)

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