Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report.
BACKGROUND
Mass screening using tandem mass spectrometry(MS/MS) was initiated to determine if the incidence of metabolic disorder is sufficiently high to meet the criteria for newborn screening, and whether or not early medical intervention might be beneficial to the patients.


METHODS
Newborns and children in a high-risk group were screened using MS/MS from April 2001 to March 2004. Blood spots of newborns were collected between 48 and 72 h after birth. The dried blood spots was extracted with 150 microl of methanol, and analyzed by MS/MS.


RESULTS
From April 2001 to March 2004, 79,179 newborns were screened for organic, amino and fatty acid metabolism disorders, which account for approximately 5.4% of annual births in South Korea. Twenty-eight newborns were diagnosed with one of the metabolic disorders and the collective estimated prevalence amounted to 1 in 2800 with a sensitivity of 97.67%, a specificity of 99.28%, a recall rate of 0.05%, and a positive predictive value of 6.38%. 6795 infants/children at high risk were screened and 20 were confirmed to have metabolic disorders.


CONCLUSIONS
The collective total prevalence of 1:2800 in newborns indicates an underestimation of the incidence of metabolic disorders prior to implementing MS/MS screening in South Korea.
Yoon
Hye-Ran
HR
Department of Biochemical Genetics, Seoul Clinical Laboratories, Seoul Medical Science Institute, 7-14 Dongbinggo-dong Yongsan-gu, Seoul, 140-809, Republic of Korea. hyeranyoon@yahoo.com
Lee
Kyung Ryul
KR
Kang
Seungwoo
S
Lee
Dong Hwan
DH
Yoo
Han-Wook
HW
Min
Won-Ki
WK
Cho
Dong Hee
DH
Shin
Son Moon
SM
Kim
Jongwon
J
Song
Junghan
J
Yoon
Ho Joo
HJ
Seo
Sonsang
S
Hahn
Si Houn
SH
D000138:Acidosis / Q000652:urine; D000293:Adolescent; D000596:Amino Acids / Q000378:metabolism; D001800:Blood Specimen Collection / Q000379:methods; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005227:Fatty Acids / Q000378:metabolism; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007723:Korea / Q000453:epidemiology; D008403:Mass Screening / Q000379:methods*; D013058:Mass Spectrometry / Q000379:methods; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis* / Q000453:epidemiology; D015997:Neonatal Screening / Q000379:methods*; D012307:Risk Factors
D000596:Amino Acids; D005227:Fatty Acids