Factors in decision making following genetic counseling for pre‐natal diagnosis of <i>de novo</i> chromosomal rearrangements

Abstract

A retrospective survey of genetic counselors was conducted in order to identify practice patterns and factors that influence a patient's decision making when a de novo translocation is diagnosed pre-natally. Different variables that influence patients' decisions about pregnancy management were assessed and compared. Specifically, the type of rearrangement and/or knowledge of the breakpoints, risks provided for abnormal outcome, anxiety, fetal ultrasound findings and personal reasons for parental decisions were evaluated. Our findings suggest that patient anxiety level significantly predicts pregnancy management decisions. This information may be of benefit in identifying potential areas of education for genetic counselors as well as other health care providers.