The Newborn Disease Screening Center of the Chongqing Health Center for Women and Children (Women and Children's Hospital of Chongqing Medical University), or CQHCWC, was established in 1996. It is the first municipal-level neonatal disease screening center approved by the Chongqing Health Commission.

The screening center integrates clinical and scientific research and education to provide congenital genetic disease screening, diagnosis, treatment, and consultation services for children. The center is integrated with the latest medical research achievements and new technologies, and has developed and commercialized many screening and diagnostic projects to serve birth defect prevention and control.

The screening center also carries out precision diagnosis and treatment of genetic metabolic diseases, and scientific research on nutrition and metabolism. It is a designated diagnosis and treatment unit for phenylketonuria under the New Rural Cooperative Medical Insurance, and an implementation unit for the China Birth Defect Intervention Assistance Fund (hereditary metabolic diseases).

It has undertaken several research projects funded by the Young Scientists Fund of the National Natural Science Foundation of China, the Chongqing Science and Technology Commission, Chongqing Health Commission, and the Chongqing Human Resource and Social Security Bureau's study abroad talent fund.

So far, the screening center has published nearly 20 SCI papers and several CSCD papers, obtained two national invention patents, and participated in compiling one textbook. It is also a graduate education unit for clinical laboratory diagnosis and has trained two master students.

Based on the three-level network management model of CQHCWC, it organizes and manages the neonatal disease screening work in Chongqing, and provides personnel training, technical guidance, quality and information management, and related health education.

It is also responsible for neonatal genetic metabolic disease screening, diagnosis, treatment, follow-up medical treatment, and genetic counseling for 17 districts and counties in Chongqing.

Technical expertise

The screening center has a neonatal disease screening and mass spectrometry technology platform, and advanced equipment such as an NS2400 fully-automated enzyme immunoassay workstation, AB Sciex 4500 MD liquid chromatography-tandem mass spectrometer, Waters TQS ultra-high performance liquid chromatography-tandem mass spectrometer, Shimadzu GCMS-QP2020 NX gas chromatography-mass spectrometer, and the Chongqing neonatal disease screening management system.

It provides screening for phenylketonuria (PKU), congenital hypothyroidism (CH), glucose-6-phosphate dehydrogenase (G6PD) deficiency, congenital adrenal hyperplasia (CAH), various hereditary metabolic diseases (tandem mass spectrometry, next-generation sequencing), and various vitamin screenings.

Experts of Neonatal Disease Screening Center