DETERMINANTS OF UTILIZATION OF TAY-SACHS SCREENING

Objective: To identify the characteristics of patients associated with optimal utilization of Tay-Sachs screening. Methods: Medical records of patients undergoing amniocentesis for genetic diagnosis were review ed. Three hundred twenty-nine of 537 charts evaluated were from indivi duals at risk for Tay-Sachs heterozygosity. Among these, 213 couples h ad previously been screened for Tay-Sachs. In 116 couples, neither mem ber of the couple had been screened before amniocentesis. A concurrent reference group consisted of 208 couples without an indication for Ta y-Sachs screening. Patient characteristics, including ethnicity, genet ic screening history, parental ages, and pregnancy history, were revie wed for each group. Analysis of variance and likelihood chi2 test were used for statistical analysis. Results: There were no significant dif ferences in maternal age or reproductive history among the groups. The most common indication for amniocentesis was advanced maternal age fo r all three groups. However, the previously screened group was more th an twice as likely to self-refer because of a positive family history or patient anxiety than was the unscreened group (P = .006). Conversel y, the unscreened group was more than twice as likely as screened coup les to be referred because of a positive high or positive low maternal serum alpha-fetoprotein level (P = .002). Conclusion: Despite 2 decad es of professional and lay education, many couples are unaware of thei r individual risk for Tay-Sachs heterozygosity. Additional education, most likely at the professional level, is needed to maximize informed participation.