Update Newborn screening

May 2019

Almost 200,000 newborns, of whom cystinosis was found in one child, have so far been examined within the framework of this model project. The early diagnosis made the therapy very successful.

This project was carried out in co-operation with the “Becker und Kollegen” laboratory in Munich and the Janzen screening laboratory in Hannover. Maternity clinics and hospitals that submitted dry blood cards to these two laboratories, were offered, in addition to regular newborn screening, an examination for cystinosis and spinal muscular atrophy if the parents agree. The examination is carried out from the dry blood cards of the regular newborn screening. The screening center at the Bavarian State Office for Health and Food Safety evaluates the pilot project during the term and finally after reaching the intended number of 350,000 samples.

This project is intended to create the methodological basis for expanding the existing newborn screening. The goal is to avoid the kidney disease that is otherwise characteristic of the disease by starting therapy as early as possible.