Objective-To assess the timeliness of neonatal (Guthrie card) screening in
North Thames, and to identify the most effective ways of improving it.
Design-Analysis of information routinely collected in the course of neonata
l screening; reanalysis of published data on blood phenylalanine concentrat
ion in phenylketonuria (PKU) over the first two weeks; simulation studies o
n the impact of different interventions.
Subjects-100 690 infants born over one year and screened at Great Ormond St
reet Hospital NHS Trust. Outcome measure-Interval between birth and reading
PKU screen results.
Results-Although 75% of samples (district range 55-91%) were collected by d
ay 7, only 81% had arrived in the laboratory seven days later (range 57-96%
). The average interval between birth and reading results was 14.5 days, wi
th only 9.7% read by day 10. Samples could be collected from day 4 without
significant impact on false negative rates for PKU. If samples were collect
ed from day 4 and posted promptly (second class), the average interval betw
een birth and reading results could be reduced to 9.3 days. If first class
mail were used and the laboratory operated on Saturdays, and used assays th
at could be read the same day rather than bacterial inhibition assays, the
average would be 7.8 days, with 96% read by day 10.
Conclusion-Timeliness of neonatal screening shows unacceptable variation be
tween districts, and delays in dispatch of specimens to the laboratory. Sam
e day, first class posting should be introduced, and samples could be colle
cted between days 4 and 8.