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Neonatal screening for congenital hypothyroidism and phenylketonuria in China
Jian-Ying Zhan1, Yu-Feng Qin, Zheng-Yan Zhao
1Department 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.
Insights
Neonatal screening for congenital hypothyroidism (CH) and phenylketonuria (PKU) in China has identified thousands of cases. Improving screening efficiency requires enhanced governmental support and better control systems.
Area of Science:
- Public Health
- Pediatrics
- Genetics
Background:
- Neonatal screening is crucial for preventing disabilities from congenital and inherited diseases.
- This review examines the status of neonatal screening for congenital hypothyroidism (CH) and phenylketonuria (PKU) in China.
Purpose of the Study:
- To review the status and trends of neonatal screening for CH and PKU in China over two decades.
- To assess the prevalence and screening effectiveness of CH and PKU in the Chinese neonate population.
Main Methods:
- Analysis of national neonatal screening data for CH and PKU from 1985 to 2007.
- Data sourced from the national network of neonatal screening centers via the National Center for Clinical Laboratory.
Main Results:
- Screening of 18.8 million newborns revealed 9,198 cases of CH (1/2,047 prevalence).
- Screening of 19.0 million newborns revealed 1,638 cases of PKU (1/11,572 prevalence).
- An increasing number of neonates underwent screening annually, with a 95.52% recall rate in Zhejiang in 2007; most treatments began within a month.
Conclusions:
- Enhanced governmental support is necessary to improve the efficiency of neonatal screening programs.
- Improving the screening control system, including report timeliness and recall rates, is essential.
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.
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