Neonatal screening. National leadership. Kutsev S.I., Zakharova E.Yu., Izhevskaya V.L.

National leadership “Neonatal Screening” is the first practical leadership in Russia, which contains relevant information about organizational, methodological and clinical issues of newborn screening for hereditary and innate diseases. The release of the book is dedicated to the expansion of the neonatal screening program in Russia to36 painting since 2023. Most of these diseases are not sufficiently known to the medical community, but after their detection, patients will fall into the area of ​​responsibility of doctors of various specialties: geneticists, pediatricians, neurologists, endocrinologists, immunologists, pulmonologists, etc. screening, including the criteria for the choice of diseases, history and international experience, ethical problems, stages (preanalytic, analytical and establishing) and testing methods, technology confirming diagnostics, a system of providing laboratory research, features of medical and genetic consulting, as well as the prospects for the development of screening programs in Relations with the emergence of new technologies of mass examination. Particular attention is paid to the description of hereditary diseases included in the screening program: the clinical picture, diagnosis and differential diagnosis, treatment and algorithms of the doctor’s actions with a positive result of a screening test.

In addition to phenylketonuria, congenital hypothyroidism, innate dysfunction of the adrenal cortex, and bowelines of cystic foc and galactosemia, screening for which has been held for more than one decade, presented in the program hereditary metabolic diseases from groups of aminoacidopathy, organic aciduria, oxidation disorders and methane metabolism, as well as spinal muscle atrophy and primary immunity deficits. A separate chapter is devoted to universal audiological screening.

The publication is intended for geneticists, neonatologists, pediatricians, neurologists, endocrinologists, immunologists, pulmonists, laboratory geneticists, clinical laboratory diagnostic doctors.