Uptake rate of carrier screening among consanguineous couples.

Abstract

To quantify the uptake rates of Carrier Screening (CS) in consanguineous couples and compare this rate to that of non-consanguineous couples. We performed a matched case control study of 82 consanguineous couples seen at Rutgers-Robert Wood Johnson Medical school who were offered carrier screening between January 1, 2012 and October 10, 2022. We then matched each consanguineous female patient to a non-consanguineous female control patient who was also offered CS at the time of their genetic counseling appointment. A 2×2 contingency table analysis was used to compare rates of acceptance and declination between the consanguineous and non-consanguineous groups. The overall acceptance rate among consanguineous couples was 82.9%, whereas the overall acceptance rate among non-consanguineous couples was 56.1%. After statistical analysis, consanguineous couples were significantly more likely to accept CS as compared to non-consanguineous couples (OR=3.801, 95% CI; p<0.0001). We also report the carrier couple rates and individual carrier statistics between these two groups. This study supports the idea that consanguineous couples are more likely to pursue CS and have a higher carrier couple yield.