DNA-BASED CARRIER SCREENING IN PRIMARY HEALTH-CARE - SCREENING FOR ASPARTYLGLUCOSAMINURIA MUTATIONS IN MATERNITY HEALTH OFFICES

Large-scale genetic screening programs are complex enterprises in whic h ethical, technical, medical, and socioeconomic aspects have to be ha ndled with professional expertise. Establishment of automated, relativ ely robust, and inexpensive laboratory techniques is one step of this path. Here a pilot carrier-screening program for the mutations causing aspartylglucosaminuria was carried out for pregnant women in primary care maternity health offices. Women (1975) were tested before their 1 2th week of pregnancy, and 31 heterozygotes were detected. The samplin g was based on dried blood strips, facilitating convenient handling an d inexpensive mailing to the laboratory. The mutation detection techni que, solid-phase minisequencing simplified by the use of scintillation microplates and automated equipment, proved to be rapid, simple, inex pensive, and reliable, with a low repeat rate (2.5%). In conclusion, w e found that good collaboration between the primary healthcare unit, t he laboratory, and counseling experts, combined with modern laboratory technology, facilitate reliable low-cost genetic testing.