A retrospective survey of community based utilization of Tay Sachs screening in Eight New Jersey counties

The purpose of this study was to determine the rate of utilization of Tay Sachs disease screening by the Ashkenazi Jewish population. Pregnant women who were referred to one of three genetic centers in New Jersey for amniocentesis unrelated to Tay Sachs screening were the study population. 4490 charts were reviewed retrospectively to determine the at risk population for Tay Sachs disease (Ashkenazi Jews) and whether or not patients and their spouses had elected Tay Sachs screening prior to referral. A group of 25 patients who did not elect screening were questioned as to their specific reason for declining Tay Sachs screening. Overall community utilization was 90%. Of the couples who did not elect screening, 64% felt that their risk to have an affected child was too small, 16% could not recall Tay Sachs screening being offered to them, 8% felt that screening was inconvenient. Tay Sachs screening as a voluntary preventive health care program has a high utilization rate in our study group.