Abstract:Objective To analyze the screening status,incidence and recall rate of congenital hypothyroidism(CH)and phenylketonuria (PKU)in Enshi Prefecture since the application of neonatal disease screening.Methods A retrospective analysis of neonatal disease screening data from 2006 to 2016 in Enshi Prefecture was conducted.Thyroid hormone(TSH)and Phenylalanine(PA)concentrations were measured by time-resolved immunofluorescence and immunofluorescence,respectively.Results From 2006 to 2016,a total of 290 973 neonates were screened by the Neonatal Disease Screening Center of Enshi Prefecture.The average positive detection rate of CH was 1∶2575,and the average positive detection rate of PKU was 1∶41 568.From 2006 to 2016,the number of screenings arose from 4508 to 33 271,and the screening rate increased from 15.82%to 94.43%.The positive rate of CH increased from 0 to 1∶2218.The positive rate of PKU increased from 0 to 1∶41 568.The screening rate and positive rate increased significantly over the ten years.The average recall rate of CH and PKU from 2006 to 2016 was 79.7%and 76.5%,respectively.The tendency of recall rate change was irregular.Conclusion The screening of newborn diseases in Enshi Prefecture is on the right track.In order to reduce the incidence of neonatal growth and metal development disorder,the management of neonatal disease screening should be strengthened.Also,early detection,diagnosis and treatment should be ensured.
Centers for Disease Control and Prevention (CDC).Good la-BoratoryPractices for biochemical genetic testing And new ScreeningForinheritedmetabolicdisorders[J].MMWRRecomm Rep,2012,61(2):1-44.