AIM of the newborn screening model programme implemented in Bavaria, Germany, in 1999 was earliest possible and complete detection of all children with treatable severe inborn errors of metabolism. This was to be achieved by the introduction of new laboratory methods (expanded disease coverage, earlier blood take) and of a tracking system to ensure complete access for all newborns and complete requested repeat testing. Long-term prognosis of the newly screened disorders is to be investigated. The model programme "newborn hearing screening in Bavaria" started in 2003 in the administrative district Oberpfalz aims at testing, whether tracking is also suitable to achieve early detection of all children with inborn severe hearing defects.
Methods: To attain these goals a central state screening centre was established. Demographic tracking coordinated by this centre is achieved by matching screening notifications with all birth notifications on name on a regional basis and individual contacts with parents of children with missing screening notification. In addition, all pending recalls are consequently tracked by case-specific contacts. This system was initially introduced for metabolism screening and is currently being implemented also for hearing screening of newborns. Both screening programmes are being scientifically evaluated. Children with disorders detected by screening are followed up in a long-term study by the screening centre. Written consent by the parents is requested yearly at the childs birthday regarding medical care, knowledge of the disease und health development of the child.
Results: 470,247 newborns were tested for treatable inborn errors of metabolism from 1999 to 2002. With the introduction of tracking, the documented participation rate increased from previously < 80 to 98.5 %. Due to tracking 99.2 % of requested recalls could be achieved. In 14 cases diagnosis was made, respectively therapy was initiated first after intervention by the screening centre. Altogether 368 children affected by the target disorders of the programme were detected. 332 children could be included in the long-term follow up study. Besides encouraging results, this study reveals deficits in parental information, provision with emergency cards, expert medical consultation, and sometimes treatment not according to the guidelines. Corresponding data from the hearing screening programme are not yet available.
Conclusion: The establishment of an independent state screening centre has proved very valuable. It enables comprehensive state-wide demographic tracking despite several laboratories engaged in screening for inborn errors of metabolism. A long-term follow-up study has proved to be effective in this setting.