[Model project for reorganising of newborn screening]

To establish a newborn screening programme for congenital metabolic or endocrine defects which meets the national requirements in Germany: documentation of complete and early diagnosis.

The main new components of the programme consist of the introduction of a new method for detection of congenital metabolic defects (MS-Ms and 17 alpha-OHP), extension of the programme to a number of new conditions such as, fatty acid oxidation defects, aminoacidopathies, organoacidurias and AGS (adrenogenital syndrome) and the establishment of a follow-up unit of the public health service (screening centre) to allow tracking of completeness of participation rates and follow-up testing of screening positives or inconclusive screening results.

350 393 children were screened during 1999 to 2001. Documented participation with the screening programme could be increased from 80 % before the introduction of the new programme to at present > 98 %. The required follow-up testing for 99.1 % of the children with positive or inconclusive screening results could be achieved. In 16.5 % (1926) of the children in need of replicate testing an intervention of the screening centre was required. 271 children with congenital metabolic or endocrine defects could be identified during the 3-year period. The mean age of blood taken for screening was 3.1 days. The new screening programmes met with high acceptance from the different participants in the health care system and from parents.

The tracking system worked excellently although the number of conditions included in the programme was high. Such a tracking system is a prerequisite for the expansion of neonatal screening programmes since many of the new conditions require early onset of treatment.