Delayed Diagnosis of Infants With Abnormal Neonatal Screens

Objective.—To identify infants who were diagnosed clinically with a condition that previously had been detected by a state neonatal screening program, but who had failed to receive medical attention in a timely fashion. Design.—A descriptive case series of infants over a 2-year period from 1989 to 1991. Setting.—An academically affiliated tertiary care pediatric hospital, a major referral center for children with abnormal results on state neonatal screening tests. Patients.—All patients who (1) had a diagnosis suspected clinically, (2) had confirmation of disease, and (3) were subsequently found to have had abnormal screening results. Main Outcome Measures.—Age at clinical diagnosis, morbidity due to delay in diagnosis, and postnatal medical follow-up. Results.—Ten children were identified, three with 21-hydroxylase deficiency and seven with a hemoglobinopathy. In each case, the screening program had clear documentation that the office of the physician of record had received prompt telephone communication of the abnormal result. The mean age at clinical diagnosis was 32 days for the children with 21-hydroxylase deficiency and 215 days for those with sickle cell anemia, substantially longer than is mandated by proper neonatal screening practice. Potentially life-threatening complications of the underlying disease were present in six children. Conclusions.—A significant number of neonates who have metabolic disorders appropriately identified by a neonatal screening test may fail to receive timely treatment. Consideration should be given to implementing a system of directly contacting the parents of all presumptive positive cases by the state screening program.