[Newborn metabolic screening]

Guidelines for neonatal screening for inborn errors of metabolism published by the Federal Joint Committee of physicians and health insurances in Germany include preanalytical specifications, e. g. blood collection at 36 to 72 hours of life and rapid sample transportation which is necessary with respect to those target diseases of the German program that might lead to very early metabolic decompensation.

Analysis of 149 854 data sets containing all necessary informations out of a total of 173 221 screening samples sent to our laboratory from April 2006 to the end of March 2007 showed significant discrepancies between the requested and the actual times recorded for blood collection. 11.5 % of samples were drawn later than required. Looking at outpatients only, 43 % of the samples were taken after 72 hours. Sample shipping was delayed in several hospitals and private practises, especially on weekends. This was the reason why 31.2 % of all samples could not be reported on within 72 hours after blood collection as required. In addition the quality of 914 samples (0.52 %) was insufficient so that a repeat sample had to be analysed.

In the future, as a rule, every baby should have his/her blood taken around the 48th hour, in any case between the 36th and 72nd hour of life. Moreover, sample shipping needs to be optimised in order to guarantee early diagnosis of inborn errors of metabolism. Also, more attention has to be paid to the quality of blood samples.