Division of Neonatal Screening

Our mission is to serve as an external quality control laboratory for neonatal screening programs in Japan. We review screening programs to ensure that suitable tests, quality assurance, cut-off points, follow-up procedures, and screening audit processes are in place and carried out. Our division collaborates with experts from related sections of the Institute and other institutions to conduct mass screening and other activities.

We aim to:

1. Conduct external quality control for neonatal screening through tandem mass spectrometry;
2. Regularly assess screening program performance, including test sensitivity, specificity, positive predictive value, timeliness of reporting, and patient outcomes;
3. Establish a national network of screening laboratories;
4. Create an innovative external quality control program that uses blind samples;
5. Devise a survey system for screening laboratories;
6. Establish an international external quality control system, and in particular a counterpart of the USA's Center for Disease Control and Prevention;
7. Collaborate with researchers at the Institute to conduct research into the natural history of disorders that can be detected by screening;
8. Examine the legal and ethical aspects of storage and reuse of residual dried blood samples, as well as developing a new type of filter paper to collect blood samples.

Members