| Abstrakt: |
Newborn screening (NBS) programs in the U.S. annually screen four million infants for metabolic and other disorders to prevent mental retardation, disability, and death. Assuring the effectiveness of NBS programs requires the collection of appropriate data for program evaluation, including short-term outcome measures (screening coverage, specimen quality, timeliness of diagnosis/treatment) and long-term outcome measures (morbidity, premature mortality, disability). We evaluated the data systems of the GA NBS program (GA NBS laboratory database and Emory University Medical Genetics database) and assessed our ability to measure these short- and potential long-term outcomes.From January 1, 1998 to December 31, 1998, the NBS laboratory received 199, 387 specimens. Of these specimens, 135, 163 (67.8%) were collected in a satisfactory manner and received by the laboratory in the appropriate time frame (less than one week of age). Another 20,839 specimens (10.4%) were collected in a satisfactory manner, but obtained after one week of age. 20,691 (10.4%) specimens were collected from low birth weight newborns and 20,687 (10.4%) specimens were classified as unsatisfactory. Of all specimens, there were 4,557 initially abnormal screening results. Final normal results were ascertained for 4,094 of these results. Clinically significant disorders were diagnosed in 93 infants; these infants received their first abnormal test results within one week of age and initial treatments between one week to two months of age.Data unavailable from the current system include the number of children the 199, 387 specimens represent. Furthermore, the current system does not allow for the assessment of long-term follow-up outcomes on the 93 children diagnosed with clinically significant disorders. These results demonstrate that while some short-term outcomes are measured, screening coverage and effectiveness of the NBS program in preventing disabilities and/or premature death cannot be adequately determined. As with other state NBS programs, there is an urgent need for the collection and linkage of various sources of information in order to conduct program evaluations. |
