[Retrospective study on neonatal screening for congenital hypothyroidism and phenylketonuria in China in the past 22 years].

OBJECTIVE: The retrospective study was carried out to investigate the nation-wide neonatal screening program in the past 22 years in China. This study aimed to summarize the experience, analyze the questions and concerns in the screening program.
METHODS: All data on the national neonatal screening in the past 22 years were from National Center for Clinical Laboratory. Study items included the development and mode of the program, screening method adopted as well as the clinical records of prevalence, treatment and follow-up etc.
RESULTS: Neonatal screening has become universal since 1985 in China. There were three modes of screening and treatment. From 1985 to 2006, a total of 13,229,242 newborns were screened for congenital hypothyroidism (CH) and 6505 were diagnosed as CH at a prevalence of 49.2/100,000; a total of 13,666,750 newborns were screened for phenylketonuria (PKU), and 1,170 were diagnosed as PKU at a prevalence of 8.6/100,000. The prevalence of CH increased year by year and the western regions in China had a much higher prevalence. The prevalence of PKU was relatively more steady than that of CH in China.
CONCLUSIONS: Neonatal screening is of paramount importance in preventing mental retardation and developmental delay after CH and PKU. It is necessary to attach more importance to increase the rate of coverage, screening and treatment, as well as social awareness of neonatal screening. It is important to focus on establishment of new screening techniques so as to improve the level of child health care in China.