An effective integrated program of neonatal screening - as a modern direction of diagnosis of hereditary metabolic diseases in children (literature review)




an extended neonatal screening, hereditary metabolic diseases, diagnosis, tandem mass spectrometry


Today’s challenges contribute to technological progress in various fields of medicine.

The introduction of extended neonatal screening (ENS) for hereditary metabolic diseases (HMDs) became the basis for the revolution of modern diagnostic technologies. Tandem mass spectrometry (TMS) technology has become a real breakthrough in the laboratory diagnosis of a number of HMDs, with the help of which it is possible to quickly determine the concentrations of dozens of different metabolites in a minimum amount of biological material at the same time.

Purpose - to summarize the literature data on the current state, progress, and prospects of extended neonatal screening for hereditary metabolic diseases.

We retrospectively analyzed the data of modern medical literature on ENS programs and investigated the issues of genomics and metabolomics in the practice of screening for HMDs according to scientometric databases: GoogleScholar, NCBI Pubmed, Cochranelibrary. The historical aspects of the formation and application of such a method of modern laboratory diagnosis of HMDs as tandem mass spectrometry are considered separately. Data on the role of genomics and metabolomics in the practice of neonatal screening for inborn errors of metabolism are also presented.

Since the identification of patients by performing ENS provides an opportunity to expand knowledge about the genesis, frequency, genotype/phenotype correlation, and thus preliminary diagnosis and treatment benefit both the health care system and society. Thanks to exome and genome sequencing technologies, detection of a wider range of diseases has become available.

No conflict of interests was declared by the author.


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