Predictors of Prenatal Screening for Fragile X Syndrome

Background: We sought to determine the uptake rate and predictors of acceptance of fragile X DNA molecular analysis among pregnant women who are offered this testing. Methods: We conducted a retrospective cohort study of pregnant patients who met with a genetic counselor in our Prenatal Diagnosis Center. The primary outcome was undergoing fragile X carrier screening. Hypothesized predictors included gestational age, insurance status, family history, the genetic counselor with whom the patient met, duration of the counseling session, and whether the patient underwent amniocentesis or chorionic villi sampling. Multivariate logistic regression was used to analyze the association between acceptance of testing and the aforementioned predictors, controlling for potential confounders. Results: Nine hundred forty-nine (17.3%) of 5,490 patients underwent fragile X screening. We observed significant variation in uptake by genetic counselor. Additionally, women who had Medical/Medicaid insurance (aOR: 1.99; CI: 1.63 - 2.43), or who had amniocentesis or chorionic villi sampling (aOR: 2.48; CI: 1.99 - 3.08) had increased odds of undergoing fragile X screening. Conclusions: Numerous factors that are reported in patients’ charts are associated with decisions to undergo fragile X DNA molecular diagnosis. Interestingly, modifiable factors including the patient’s genetic counselor and insurance status appear to have a significant impact on acceptance of fragile X screening. J Clin Gynecol Obstet. 2015;4(2):203-208 doi: http://dx.doi.org/10.14740/jcgo301w