The bavarian newborn screening model - Concept and first results

The newborn screening programme in Bavaria was confronted with several prob lems. Number of disorders and process quality no longer complied with scree ning guidelines. Mixed financing, distributed between the state (PKU, galac tosaemia) and health insurances (hypothyroidism) had promoted an increasing dissipation of the system. Notified participation rates had dropped to < 8 0%. Increasing need for a second screening due to early discharge was an ad ditional challenge. To overcome these problems, and considering the availab ility of improved screening methodology (tandem mass spectrometry) the prog ramme was reorganised. The project, which started on Jan 1, 1999, is based on a cooperation model between laboratory (logistics, analysis), universities (treatment, scientif ic evaluation), and public health services (coordination, tracking). Time o f blood sampling was predated to the third day of life. Screening was exten ded to biotinidase deficiency, congenital adrenal hyperplasia (CAH) and by introduction of tandem mass spectrometry for screening of many other disord ers (besides PKU). Insurances now finance complete laboratory analysis whic h was transferred to the private sector. To enable all newborn to participa te, the names of screened children are matched against birth lists by publi c health services on a regional basis. Recalls and conspicuous results are consistently followed up until disorders are either excluded or confirmed. Two clinical hotlines were established in the children's hospitals of the u niversities in Munich (Southern Bavaria) and in Erlangen (Northern Bavaria) . Written consent is required for participation in the programme. Participation in the new programme could be continually increased; coverage is >95% since April. In several cases screening was made up for not tested children by contacting their parents. Omitted screening was mostly due to misunderstandings regarding testing responsibility or lost samples. Altoget her 52 cases of disorder were found in the 87,000 newborn screened until Au gust 1999. Hence, the detection rate of children affected by inborn errors of metabolism was about twice as high than before changes. Among the newly screened diseases CAH was detected most often (11 cases). In 22 cases diagn osis was based on the use of tandem mass spectrometry. Among these (besides PKU, 9 cases) MCAD deficiency (6 cases) was detected most frequently. Wher eas recall rates of most disorders were < 0.1 %, screening for CAH still re vealed a high recall rate, particularly in premature births. Second screeni ng due to early discharge (< 48 h) was required in 1.3%. About 20% of pendi ng recalls required contacting birth hospitals, doctors, midwives or parent s. So far all affected children could be brought to treatment in time.