Women's Perspectives on Noninvasive Prenatal Testing for Detection of Sex Chromosome Abnormalities and Microdeletions [284

Abstract

INTRODUCTION: Noninvasive prenatal testing offers risk assessment for trisomy 21, 18, and 13, as well as sex chromosome abnormalities and select microdeletion syndromes. METHODS: We conducted focus groups to explore patients' views about noninvasive prenatal testing to assess fetal risk of sex chromosome abnormalities and microdeletions. RESULTS: Thirty-one women (mean age 32.4 years) participated in the focus group discussions; 10 women had noninvasive prenatal testing. Most participants were unfamiliar with sex chromosome abnormalities. Of those who underwent noninvasive prenatal testing (10), most (90.0%, n=9) were aware that noninvasive prenatal testing could identify fetal sex before testing and half (n=5) were aware of the test's ability to detect sex chromosome abnormalities. Participants were more familiar with trisomy 21, 18, and 13 than sex chromosome abnormalities and microdeletion syndromes and recommended that, at a minimum, clinicians provide information about all conditions being assessed before undergoing noninvasive prenatal testing. Participants were uncertain about the benefit of testing for microdeletions because of lack of familiarity with these conditions and resulting medical and cognitive disabilities. Because of the volume of information gained from noninvasive prenatal testing compared with serum analyte screening, participants also recommended that provision of information about sex chromosome abnormalities and microdeletions be individualized to the needs and preferences of patients considering their testing options. CONCLUSION AND IMPLICATION: These findings support the need for clinicians to inform patients about all conditions that noninvasive prenatal testing can detect at the time of test introduction to the patient.