Asia Pacific Journal of Pediatric and Child Health

Abstract Ref Number = APCP120

Invited Speakers

Effects and problems of expanded newborn screening in Japan: Significance of collaboration with Asian countries.

Seiji Yamaguchi Department of Pediatrics, Shimane University School of Medicine

In Japan, the expanded newborn screening (NBS) with MS/MS (expanded NBS, ExNBS) was initiated nationwide in 2014 after 17 years of pilot study. The effects and problems of the ExNBS in Japan are presented. Total detection incidence in the ExNBSof 3.36 million babies tested was 1 in 8,557, which is smaller than that of European countries. Propionic acidemia was most common (1:41 K), followed by PKU (1:46 K), VLCAD deficiency (1:93 K), and methylmalonic acidemia (1:120 K). The proportion of IMDs was different before and after introduction of ExNBS. Concerning the prognosis, beneficial effect of ExNBS was observed. About 85% and 27% of children with IMDdetected in ExNBS and high-risk (HR)-screening, respectively, could achieve normal development after diagnosis. The targetdisease of NBS is rare, and only a few experts or specialized hospitals for such diseases are available in each local area. Standard system for treatment of positive cases and for quality control is required. “Consultation center”which can access the experts, and“quality control center”which regularly performs proficiency test and quality control test for the 40 TMS laboratories, were established. Nationwide registration and follow up system of IMD patients identified in NBS has not been established in Japan. Lack of such a system does not allow evaluation of cost benefitof NBS or understanding evidence of long term prognosis. Special formula for dietary treatment has been provided by volunteer of the Japanese Milk companies to date, andcurrently, the steady supply becomes a big problem to be solved. Recently, ExNBS is becoming popular worldwide including Asian countries. Before introduction of ExNBS, HR-screening for symptomatic cases may be helpful for planning the NBS policy in each country. We reported the diversity in disease spectrum in Asian countries, probably due to difference of genetic back ground or life style. Even if a disease is extremely rare in a country, it might be relatively common in the other country. Collaborative study of Asian countries will be helpful for development or improvement of diagnosis and treatment, and for the study on pathophysiology and genetic background of the IMDs.

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