Adjunct Prenatal Testing: Patient Decisions Regarding Ethnic Carrier Screening and Fluorescence In Situ Hybridization

Abstract

Little has been reported regarding how women make decisions about genetic carrier screening for Ashkenazi Jewish genetic disease and cystic fibrosis (CF), and for fluorescent in situ hybridization (FISH) during pregnancy. Thirty-seven women who underwent genetic counseling and prenatal diagnosis were interviewed about their prenatal decision making. Respondents were largely Caucasian (95%), and undergoing prenatal diagnosis because of maternal age (78%). Sixty-three percent of those who reported having genetic carrier screening correctly defined it; 83% felt positively about it. Primary reasons reported for electing screening were: to get information, to be prepared, perception of risk, wanting peace of mind and percieved inability to care for an affected child. Women who declined screening felt they had very little or no risk, and some were deterred by cost. Ninety-five percent of respondents elected to have FISH; most were motivated by its speed in providing information and peace of mind or by timing of when the procedure was performed. Those who declined FISH reported being less concerned about having an affected child, receiving bad news, or waiting 2 weeks for results and slightly less affected by their “feelings toward medical testing” or physician's suggestion. These findings suggest decision-making factors differ between those electing and declining adjunct prenatal testing and increased knowledge about these factors may impact the way in which these services are offered by health care professionals. Prospective research with a larger population will be useful in further delineating the factors that influence prenatal decisions about adjunct testing measures.