Neonatal Screening for phenylketonuria and congenital hypothyroidism in China

Gu XF

Xin Hua Hospital, Shanghai Second Medical University, Shanghai, China

Neonatal Screening for some diseases has gained great acceptance and provides a good example of the tremendous achievements in the field of preventive medicine. Neonatal Screening for some diseases has gained great acceptance and provides a good example of the tremendous achievements in the field of preventive medicine To prevent main causes of mental retardation, the neonatal screening for phenylketonuria (PKU) and congenital hypothyroidism (CH) was introduced in mainland China since early of 1980's.

According to 2.2 million newborn screenings data collected from major screening laboratories in passed years, the incidence of phenylketonuria was 1:11 188 and the CH was 1:3 624. A quality control laboratory was established in Beijing from 1999 and it is done 3 times per year. At present, the coverage rate of neonatal screening is near 5%. However in some big cities like Shanghai and Beijing, the coverage rate reached more than 95%.

As a developing country, economic conditions are different from region to region, it is still a big challenge for nationwide screening program. To gradually increase the national coverage rate of neonatal screening, we should training more stuff concerning neonatal screening and to apply more new techniques in neonatal screening such as tandem mass technique, development of Internet network system between neonatal screening laboratories.