초록
TMS가 확산되고 검사가 많아짐에 따라 위양성 건수도 증가하고 있다. 본 연구에서는 2012년 1월 1일부터 2014년 12월 31일까지 단일 기관에서 출생한 신생아를 대상으로 시행한 TMS의 위양성율을 조사하고 관련된 요인들을 분석하였다. 총 검사 대상자 중 남아는 8,942명(51.7%), 여아는 8,350명(48.3%)이었고, 평균 제태연령은 $38.6{\pm}1.7$주 였다. 평균 출생 체중은 $3,155.6{\pm}502.4g$, 평균 출생 신장은 $49.1{\pm}2.9cm$, 평균 체질량지수는 $13.0{\pm}3.8kg/m^2$ 이었다. 질식 분만은 9,713 (56.2%)건, 제왕절개는 7,579 (43.8%)건이었다. 평균 검사 시행일은 $2.8{\pm}1.1$일이었다. 위양성을 포함하여 TMS에서 양성으로 확인된 224명은 전체 대상자의 1.3%였다. 다중 로지스틱 회귀분석을 통해 분석한 결과 27주 이하의 초미숙아에서 위양성으로 나타날 odds ratio가 6.957 (95% CI: 1.273-38.008), 1,000 g 이하의 극저체중아에서 5.616 (95% CI: 1.134-27.820)로 나타났다. 위양성 대상자들 중에서는 지방산 대사이상 질환(fatty acid oxidation dis-orders)이 104명(47%), 아미노산 이상질환(amino-acidopathy)가 75명(34%), 유기산 이상 질환(organic aciduria)가 43명(19%)이었다. 전국적인 자료를 모아 평가한다면 국내 발생률에 대한 정확한 평가 및 접근이 가능할 것으로 생각한다.
Objective: Newborn screening leads to improved treatment and disease outcomes, but false-positive newborn screening results may impact include parental stress and anxiety, perception of child as unhealthy, parent-child relationship dysfunction, and increased infant hospitalizations. The purpose of this study was to investigate of the false positive rates and the causative factors of false positive results in Tandem Mass Spectrometry (TMS) in single center. Methods: Records were reviewed for all 18,872 subjects who were born in Cheill General Hospital, during January 1st, 2012 to December 31st, 2014. 17,292 neonates (91.62%) were tested for tandem mass screening almost in 2-5th day of life. Newborn babies whose first results were abnormal had been tested repeatedly by same methods in 7-14 day. If the results were abnormal again, further evaluation was performed. TMS analysis included data for the 43 disorders screened for using TMS broken down into three categories: fatty acid oxidation disorders, organic acidurias, and aminoacidopathies. The impact of several factors on increased false positive rates was analyzed using a multivariate analysis: time from birth to sample collection, birth weight, birth height, BMI, gender, gestational age, delivery type. Results: Males of the subjects were 8942 (51.7%), female 8350 (48.3%), the mean gestational age was $38.6{\pm}1.7$ weeks, the average birth weight $3,155.6{\pm}502.4g$, the average birth height $49.1{\pm}2.9cm$, and the average BMI $13.0{\pm}3.8(kg/m^2)$. Vaginal delivery cases were 9713 (56.2%), caesarean section 7,579 (43.8%). The average date of the inspection was $2.8{\pm}1.1$ days. 224 cases were identified as TMS positive. All the subjects were false positive (222/17,292, 1.30%) except 2 cases (1 male; benign phenylketonuria and 1 female; Short chain acyl-CoA dehydrogenase deficiency). The false positive rates were 0.61% in fatty acid oxidation disorders, 0.25% in organic acidurias, and 0.45% in aminoacidopathies. In our study, the date of inspection got late, the false positive rates got higher. Because almost the cases of late test date were in treatment in neonatal intensive care unit so their test date was affected by their medical conditions. False positive rate was higher in extreme immaturity${\leq}27$ weeks than newborns of gestational age >27 weeks [OR=6.957 (CI=1.273-38.008), p<0.025] and extremely low birth weight<1,000 g than newborns of birthweight ${\geq}1,000g$ [OR=5.616 (CI=1.134-27.820), p<0.035]. Conclusion: False positive rate of TMS was 1.30% in Cheil General Hospital. Lower gestational age and birth weight impacted on increased false positive rates. Better understanding of factors that influence the reporting of screening tests, and the ability to modify these important factors, may improve the screening process and reduce the need for retesting. of screening tests, and the ability to modify these important factors, may improve the screening process and reduce the need for retesting.