The uptake of pan‐ethnic expanded carrier screening is higher when offered during preconception or early prenatal genetic counseling

Objective To examine factors that influence uptake of expanded carrier screening (ECS) among women undergoing preconception and prenatal genetic counseling. Methods We retrospectively reviewed 500 medical records from women with prenatal or preconception genetic counseling at a prenatal genetic counseling service. We tabulated acceptance of ECS by indication for genetic counseling along with demographic and pregnancy‐related factors. Results ECS was offered to 483 of 500 women, and 192 (39.8%) accepted. Of the 67 women counseled preconceptionally, 46 (68.7%) accepted ECS. This was significantly more than for 416 women counseled during pregnancy, of whom 146 (35.1%) accepted (P ≤ 0.001). For pregnant patients, the mean gestational age of those accepting ECS (12 weeks 3 days; n = 146) was significantly lower than those declining (13 weeks 4 days; n = 270; P ≤ 0.001). The acceptance rates were 7 of 12 (58.3%, P = 0.195) for Ashkenazi Jewish women, 12 of 41 (29.3%; P = 0.186) for Asian women, and 7 of 25 (28.0%; P = 0.241) for women of mixed ethnicity. Conclusions These results suggest that receiving genetic counseling prior to or earlier in the first trimester is associated with acceptance of ECS and support the importance of early genetic counseling about carrier screening options. What's already known? Pan‐ethnic expanded carrier screening (ECS) can now be offered to all patients for a wide number of diseases to determine one's carrier status. The factors that influence decisions about proceeding with ECS after genetic counseling are not well known. What does this study add? There was an association between acceptance of ECS and receiving genetic counseling prior to or earlier in the first trimester. Differences in ECS acceptance rates, while not significant, suggested a higher acceptance by Ashkenazi Jewish women and lower acceptance for Asian women and those of mixed ancestry. These findings support the importance of early genetic counseling about ECS, preconceptionally or early in the prenatal period.