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Who Gets Missed: Coverage in a Provincial Newborn Screening Program for Metabolic Disease

Objective. To determine coverage of the newborn screening program (NSP) for metabolic disease in Alberta, Canada, and to determine reasons for not being screened. Study Design. Coverage was estimated by deterministic matching of live birth registration data with newborn screening data for the year 1992. Demographic characteristics of not-matched infants were compared with good-match infants using logistic regression. Results. For 42 392 live births, there were 41 553 screening records, of which 40 593 infants were very good matches to NSP records. Another 960 were possible matches. A total of 839 infants were not matched at all, and coverage was estimated at 98.0%. Determinants of infant not-matched status were death in week 1 (adjusted odds ratio [OR]: 383); birth weight of <1500 g (adjusted OR: 18.9) or between 1500 and 2500 g (adjusted OR: 3.2); having a mother who was single (adjusted OR: 2.7) or formerly married (adjusted OR: 12.9); or being born out of hospital (OR: 19.2). The calculated 98% coverage is close to an estimate of 98.3% made by the NSP comparing total births with initial screenings. Conclusion. The matched data give insight as to who was missed and point to the need for closer attention for infants at greater risk of not being screened for metabolic disease.