title: Experiences among Women with Positive Prenatal Expanded Carrier Screening Results.
abstract: The offering and acceptance of expanded carrier screening is increasing among pregnant women including women without an increased risk based on race, ethnicity or family history. The chances of a positive screening test have been reported to be as high as 24 % when multiple conditions are screened. Yet, little is known about the way these tests are offered and how patients are affected by a positive test result. To explore this area of genetic testing, interviews (n = 17) were conducted among women who received positive expanded carrier results in the context of obstetric care. A content analysis was conducted on the transcript data from the interviews. Outcomes of this research suggest that educational interventions are needed to improve maternal understanding of positive carrier screening results. Most of the participants in this study confused the results with other prenatal screening test options. In addition, the way the results were discussed varied greatly, and influenced participants' thoughts about reproductive decisions that led to a range of emotional uncertainty. Our data suggests that genetic counseling improved participants' understanding of positive results. More research is needed to further understand if our results are consistent within a larger, more diverse sample, and to explore how to best provide education about expanded carrier screening.
authors: Division of Health Systems and Community-Based Care, College of Nursing, School of Medicine, University of Utah, 10 South 2000 East, Salt Lake City, UT, 84112, USA. erin.rothwell@nurs.utah.edu.|Division of Medical Ethics and Humanities, University of Utah, Salt Lake City, UT, USA. erin.rothwell@nurs.utah.edu.
authors: Erin
authors: E
authors: Rothwell
authors: Division of Health Systems and Community-Based Care, College of Nursing, School of Medicine, University of Utah, 10 South 2000 East, Salt Lake City, UT, 84112, USA.
authors: Erin
authors: E
authors: Johnson
authors: Division of Maternal Fetal Medicine, Department of ObGyn, University of Utah, Salt Lake City, UT, USA.
authors: Amber
authors: A
authors: Mathiesen
authors: Division of Health Systems and Community-Based Care, College of Nursing, School of Medicine, University of Utah, 10 South 2000 East, Salt Lake City, UT, 84112, USA.
authors: Kylie
authors: K
authors: Golden
authors: Division of Health Systems and Community-Based Care, College of Nursing, School of Medicine, University of Utah, 10 South 2000 East, Salt Lake City, UT, 84112, USA.
authors: Audrey
authors: A
authors: Metcalf
authors: Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.
authors: Nancy C
authors: NC
authors: Rose
authors: Division of Medical Ethics and Humanities, University of Utah, Salt Lake City, UT, USA.|Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.
authors: Jeffrey R
authors: JR
authors: Botkin
mesh_terms: D000328:Adult; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D010353:Patient Education as Topic; D011247:Pregnancy; D011296:Prenatal Diagnosis
keywords: Expanded carrier screening; Genetic counseling; Genetic testing; Positive results; Pregnancy