Neonatal screening intervention strategies and effect analysis of Huizhou City

Abstract

Objective To investigate the screening of neonatal congenital hypothyroidism( CH) ,phenylketo-nuria(PKU) ,glucose -6 - phosphate dehydrogenase deficiency(G-6-PD) for need and the feasibility,building methods and intervention strategies for early detection,early diagnosis and early treatment of congenital metabolic diseases. Methods In 119 847 cases with neonatal congenital diseases, screening coverage was 71. 3% , the establishment of the city's leading group for neonatal screening and technical steering group,establish and improve neonatal screening network and the implementation of standardized management, improve the quality of neonatal screening, neonatal screening and intervention in the results were analyzed. Results In 119 847 cases,confirmed of CH 40 cases,the incidence rate was 0.03% ,PKU 2 cases,the incidence rate was 0.0017% ; G-6-PD 4326 cases, incidence rate was 3.60%. The incidence of G-6-PD was significantly higher than CH, PKU ( χ~2= 8.45, P <0.05); tracking rate was 91.6% ,the positive recall rate was 76. 8% ;42 children with timely treatment,avoiding the occurrence of mental retardation. Conclusion Three kinds of congenital disease prevention was effective, the need for further work to carry out neonatal screening coverage .particularly in rural areas, will be included in neonatal screening to the new rural cooperative medical coverage and improving the quality of newborn babies in Huizhou City. Key words: Metabolism, inborn errors; Screening; Intervention strategies; Infant, newborn