Delayed diagnosis of infants with abnormal neonatal screens
R. Listernick, L. Frisone and B. L. Silverman
Department of Pediatrics, Children's Memorial Hospital, Chicago, IL 60614.
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.
