Neonatal screening for congenital hypothyroidism and phenylketonuria in China.
BACKGROUND
Neonatal screening is helpful to prevent serious disability and sufferings caused by congenital or inherited disease. This study was to review the status of neonatal screening for congenital hypothyroidism (CH) and phenylketonuria (PKU) in China.


METHODS
We analyzed data of neonatal screening for CH and PKU in the past two decades which were obtained from the national network of neonatal screening centers collected by the National Center for Clinical Laboratory.


RESULTS
Of 18.8 million newborns screened from 1985 to 2007, 9198 were identified with CH, giving a prevalence of 1/2047. In 19.0 million newborns screened in the same period, 1638 had PKU, with a prevalence of 1/11 572. An increasing number of neonates have been subjected to neonatal screening in China annually during this period. Data from Zhejiang Neonatal Screening Center showed that the recall rate of neonates suspected with CH and PKU was 95.52% in 2007. Confirmatory tests were performed and treatments were initiated in most of the neonates with CH and PKU within a month after birth.


CONCLUSIONS
More governmental support at different levels is needed to make neonatal screening more efficient. The screening should be improved with a satisfactory control system including shorter time of report and a higher recall rate.
Zhan
Jian-Ying
JY
Department of Pediatric Health Care, Children's Hospital, Zhejiang University School of Medicine and Zhejiang Key Laboratory for Diagnosis and Therapy of Neonatal Diseases, Hangzhou 310003, China.
Qin
Yu-Feng
YF
Zhao
Zheng-Yan
ZY
D015415:Biomarkers / Q000097:blood; D002681:China / Q000453:epidemiology; D003409:Congenital Hypothyroidism / Q000175:diagnosis* / Q000453:epidemiology*; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods*; D010649:Phenylalanine / Q000097:blood*; D010661:Phenylketonurias / Q000175:diagnosis* / Q000453:epidemiology*; D015995:Prevalence; D012016:Reference Values; D012189:Retrospective Studies; D013972:Thyrotropin / Q000097:blood*
D015415:Biomarkers; D010649:Phenylalanine; D013972:Thyrotropin