Analysis of the results of neonatal inherited metabolic disorders screening using tandem mass spectrometry in Xinjiang
Objective To analyse the results of neonatal inherited metabolic disorders screening using tandem mass spectrometry in Xinjiang and to obtain neonatal inherited metabolic disorders of high incidence and disease spectrum of the disorders in Xinjiang.Methods Tandem mass spectrometry non-derivatization detection kit was used to screen 41690 new-borns in Xinjiang.Newborns who were positive for the first screen were recalled for recall and reexamination,and newborns who were positive in both screens needed to make disease diagnosis combined with clinical manifestations,biochemical and genetic tests.Results Among the 41690 neonates,1460 cases were positive in primary screening,with a positive rate of 3.50％.Among them,1420 cases were recalled,of which 127 neonates were positive for re-screening,and 36 cases were finally con-firmed,with a total incidence rate of 1/1158 and a positive predictive value of 2.50％.Among the 36 children,25(69.44％)had amino acid metabolism disorders,2(5.56％)fatty acid metabolism disorders,and 9(25.00％)organic acid metabolism disor-ders.Among them,hyperphenylalanineemia was the most abundant,with a detection rate of 1/1668,followed by methylmalo-nic acidemia,with a detection rate of 1/8338.Conclusion Tandem mass spectrometry screening technology can greatly im-prove the screening efficiency,achieve early detection,early diagnosis and early treatment,improve the prognosis of children,and provide a data basis for the formulation of birth defect prevention and control strategies in Xinjiang.
inherited metabolic diseasestandem mass spectrometrynewborn screening
NETL
NSTL
万方数据
