Newborn screening in Korea

The Ministry of Health and Social Affairs adopted a newborn screening program in 1991 to cover low-income families. The system was extended in 1997 to cover all newborns. The number of screened conditions was reduced from 6 (CH, PKU, Gal, MSUD, HU, HIS) to 2 (CH, PKU) in 1995. The national newborn screening program was in need of an in-depth review for further improvement. Thus, a background survey was conducted at 241 health centers in June 2000 to assess the current status of the screening system and to identify characteristics of detected patients. Expert opinions on the effect and efficiency of the screening program were also gathered. The number of identified cases was 481--CH (378 cases), PKU (73), MSUD (11), PA (7), UCD (9) and Gal (3). Most cases were identified after 1997. Of all cases, 83.5% were identified within 2 months after birth; discovery rate within 2 months after birth increased rapidly from 23.5% in 1994 to 90% in 1997; 17.7% of PKU and 4.2% of CH cases had associated family histories. Among the problems the present study revealed are: absence of an organization responsible for coordination and control of national newborn screening services, too many screening laboratories (76 laboratories as of 2000), inadequate follow-up treatments and services, complicated remuneration system. Further services; reduce the number of screening laboratories from the current 76 to 3-4 laboratories; mplement Tandem Mass Screening; and simplify the remuneration system.