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

TLDR

Newborn screening in Mainland China began in 1981 with a pilot demonstrating feasibility, expanded to include MS/MS in 2004, but coverage remains limited in mid‑western regions. The study aims to secure government policy and financial support for expanding newborn screening. The program focuses on detecting congenital hypothyroidism and phenylketonuria to prevent or reduce mental and physical developmental retardation in children. Over 35.7 million newborns were screened for PKU and CH, identifying 3,082 PKU cases (incidence 1/11,614) and 17,556 CH cases (incidence 1/2,034), while a pilot MS/MS study of 371,942 neonates detected 98 metabolic disorder cases with a prevalence of 1/3,795, sensitivity 98.99 %, specificity 99.83 %, and PPV 13.57 %.

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 mid-western 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%. The most important is to get the government's policy and financial support for expanded screening.