Evaluation of the effectiveness and optimization of the screening diagnostic service for congenital hypothyroidism in Moscow

System of neonatal screening diagnosis (SD) of congenital diseases implies free-of-charge examinations of newborns, which is very expensive for the state. This is the cause for regular evaluation of the system’s efficiency. The evaluation includes analysis of clinical efficiency (detection rate and terms of treatment beginning) and economic efficiency (financial estimation of the ratio of prevented harm to financial loss). We evaluated medical efficiency of system of overall SD of congenital hypothyrosis (CH) in children born in Moscow in 1990-1998 (n = 601602) in order to develop recommendations on optimization of the system. The main efficiency criteria in recent years are as follows: 93-99% newborns were examined at the first stage of screening at maternity hospitals (vs. international standard > 95%); 88% subjects with abnormal results at the first stage were retested at the second stage (vs. international standard 100%); 3) babies ’ ages by retesting was 36 days, by the moment of diagnosis 55 days, and by the beginning of treatment 64 days (vs. international standard up to 30 days). Still, comparison of the results of SD with the data of the "prescreening epoque" (before 1990) demonstrates obvious positive shifts. Before SD was introduced in Moscow, CH was diagnosed in 67.5 ± 4.2%> children (2/3 of 123 cases) at even later terms, after 3 months of life; in 9 years SD value decreased more than 3-fold (p < 0.001) and the diagnosis was recorded in only 19.7 ± 4.6$ patients (1/5 of 76 cases). The detected errors and defects in organization and implementation lay the basis for recommendations on optimizing SD system in order to accelerate the process of CH detection and prescription of urgent therapy: 1) To improve the collection of information aimed at search of the child by modifying the initial blank in maternity hospital (to record home address and telephone number). 2) If the values of thyrotropic hormone at the first stage suggest CH (>50 IU/Hter), the diagnosis should be verified serologically at once, without the stage of whole blood retesting, which is performed only for values 20—50 IU/liter.

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