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A Modified Sonographic Algorithm for Image Acquisition in Life-Threatening Emergencies in the Critically Ill Newborn
Published on: April 7, 2023
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Newborn screening in Japan: restructuring for the new era.
1Department of Pediatrics, Shimane University School of Medicine, 89-1 En-ya-cho, Izumo, Shimane 693-8501, Japan. seijiyam@med.shimane-u.ac.jp
Annals of the Academy of Medicine, Singapore
|November 12, 2009
Summary
Japan
Area of Science:
- Biochemistry
- Genetics
- Public Health
Background:
- Neonatal mass screening for inherited metabolic diseases in Japan began in 1977.
- Over 8000 children have been protected from handicaps in 30 years.
- Declining birth rates and economic issues necessitate a more effective screening system.
Purpose of the Study:
- To evaluate the effectiveness of new screening methods, including tandem mass spectrometry (MS/MS).
- To assess the incidence and characteristics of inherited metabolic diseases in Japan.
- To improve diagnostic support networks and laboratory efficiency.
Main Methods:
- Pilot screening using tandem mass spectrometry (MS/MS) in 6 laboratories.
- Analysis of 606,380 babies screened between 1997 and 2007.
- Development of automated gas chromatography-mass spectrometry (GC/MS) data processing and diagnostic support systems.
Main Results:
- Incidence of inherited metabolic diseases found to be 1 in 9330.
- MS/MS screening identified different disease frequencies compared to symptomatic cases.
- Propionic acidemia was most common in MS/MS screening; methylmalonic acidemia in symptomatic cases.
- Outcomes for patients detected via MS/MS screening were significantly better.
Conclusions:
- MS/MS screening offers significant benefits for early detection and improved patient outcomes.
- Enhanced diagnostic support networks and automated systems improve screening efficiency.
- Re-organization of screening laboratories is needed for a more efficient national network.
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