Advances in international newborn screening / 中华实用儿科临床杂志

ABSTRACT

Newborn screening is an important national public health policy and measure to reduce birth defects and improve the quality of China′s birth population.In the early 1960s, Dr.Robert Guthrie of the United States invented the first newborn screening test, namely, semi-quantitative determination of phenylalanine in dry blood filter paper for screening phenylketonuria.In the 1990s, tandem mass spectrometry (MS/MS) began to be applied to the screening of genetic metabolic diseases in newborns.This technology enabled the detection of multiple diseases by one test, and increased the types of diseases detected.In the past 10 years, with the development of screening technology, the invention of new drugs, the improvement of treatment methods, and especially the application of new technologies such as newborn genetic screening, the source of mutations can be identified at the molecular level.Moreover, newborn screening is extended to patients who are not candidates for MS/MS.Many genetic diseases are able to be screened and diagnosed early.Effective management and quality control of newborn disease screening are prerequisites for improving the quality and accuracy of results.Secondary and multi-level detection strategies, different biochemical or biochemical genetic testing methods, and the integration of targeted and non-targeted multi-omics data have a wide range of applications and great clinical value.