Newborn Screening for Inborn Errors of Metabolism in Mainland China: 30 Years of Experience

Abstract

The history of the Newborn Screening Program in Mainland China begins in 1981, when a pilot plan was developed that demonstrated the feasibility of its implementation. It has so far focused on the detection of congenital hypothyroidism (CH) and phenylketonuria (PKU) to prevent or reduce mental and physical developmental retardation in children. Throughout this period, a total of 35,795,550 dried blood samples (DBS) of newborns (NB) have been analyzed for PKU, and 35,715,988 for CH. During this period, 3,082 cases with PKU have been diagnosed, resulting in an incidence of 1 case per 11,614 (95% confidence interval 11,218-12,039) live births. In relation to CH, 17,556 cases have been confirmed, arriving at an incidence of 1 case per 2,034(95% confidence interval 2,005-2,065) live births. The biggest challenge for universal newborn screening is still to increase coverage to midwestern area. In Mainland China, MS/MS newborn screening started in 2004. In a pilot study, 371,942 neonates were screened, and 98 cases were detected with one of the metabolic disorders, and the collective estimated prevalence amounted to 1 in 3795 (95% confidence interval 3,168-4,732) live births, with a sensitivity of 98.99%, a specificity of 99.83%, and a positive predictive value of 13.57%.

Inborn Errors of Metabolism: Challenges and Management

“…The nationwide NBS in Japan for PKU, MSUD, histidinemia, homocystinuria and galactosemia has been performed since 1977 and formulated the treatment guideline for the target diseases [13]. In Mainland China NBS began in 1981 to detect congenital hypothyroidism (CH) and PKU [14]; and in Denmark on February 1, 2002 as a national prospective pilot project [15]. However, in many countries including India, neonatal screening programs have been unable to expand and have been limited to a few diseases.…”

Newborn screening and related policy against Phenylketonuria in China

“…From1985 to 2006, a total of 13.66 million newborns had been tested for PKU and 1,170 cases had been confirmed, for a PKU rate of 1/11,680 (10). Prior to 2011, a total of 35.79 million DBS from newborns had been tested for PKU and 3,082 cases of PKU had been confirmed, for a PKU rate of 1/11,614 (11). According to available data (10,12), the number of newborns screened for PKU increased markedly after 1999 ( Figure 1).…”

“…These laws and regulations have identified the importance of newborn screening in law, stipulated that PKU be screened for, included newborn screening into basic maternal and infant health care services, established a protocol and technical specifications for China's newborn screening (in order to improve the quality of PKU screening and testing), and specified the objectives of newborn screening program, including PKU screening (14)(15)(16)(17)(18) The program of newborn screening for PKU had made significant process with the help of those laws and regulations. There were only 3 screening centers in the 1980s, when newborn screening had just started, and yet the number increased to 46 in 2002 and then to 179 by the end of 2009 (11). The percentage of newborns covered by the newborn screening program also increased from 3.86% in 2003 to 59.01% in 2009 (11).…”

“…There were only 3 screening centers in the 1980s, when newborn screening had just started, and yet the number increased to 46 in 2002 and then to 179 by the end of 2009 (11). The percentage of newborns covered by the newborn screening program also increased from 3.86% in 2003 to 59.01% in 2009 (11). In addition to these laws and regulations, specific measures and regulations regarding PKU that have been implemented in cities and provinces of China warrant attention.…”

Current situation and prospects of newborn screening and treatment for Phenylketonuria in China - compared with the current situation in the United States, UK and Japan

“…Since 1981, a newborn screening program has been implemented by the China government, which mainly focused on congenital hypothyroidism (CH) and PKU. Between 1985 and 2006, according to the accessible data (17,18), a total number of 13,666,750 newborns had been tested for PKU and 1,170 cases had been confirmed as PKU patients, with a positive result rate of 1/11,680, and screening numbers for PKU increased remarkably after 1999 ( Figure 1). In recent years, the China government also started to put more emphasis on the response to PKU, but since the diagnosis and treatment for PKU in China is still a relatively new area, many deficiencies may exist.…”