Neonatal screening for hereditary diseases in Russia: yesterday, today, and tomorrow


The history of neonatal screening in the Russian Federation community began in 1993. These were the first examinations of newborns for phenylketonuria (PKU) and congenital hypothyroidism (HT).

The introduction of mass screening into the medical practice occurred with significant difficulties due to the lack of awareness of health professionals about the goals, objectives, and possibilities of the screening. Moreover, the tests were conducted in interregional laboratories only. This fact caused significant logistical problems, and the situation required a correction. In 2006 the decree “On the mass examination of newborn for hereditary diseases” was signed. Based on the order, neonatal screening for hereditary diseases was carried out in 5 groups of nosological forms in the Russian Federation, up to date.

The organization of neonatal screening according to order#185 changed the diagnosis profile for three new diseases and significantly improved earlier screened diagnoses. Moreover, multiple reductions in infant mortality from the salting-loss form of adrenogenital syndrome were achieved. The life expectancy of cystic fibrosis patients increased more than two times. The quality of life for all diseases also increased significantly. In 2021, the Federal Program “Expanded Neonatal Screening” was developed, and in 2022 the Order of the Ministry of Health of the Russian Federation #274n “On Approval of the Procedure for Providing Medical Care to Patients with Congenital and (or) Hereditary Diseases” was published.

29 metabolic disorders will be screened by tandem mass spectrometry from 2023. A group of the diagnoses as spinal muscular atrophy and a group of primary immunodeficiency will be detected by polymerase chain reaction. Effective methods of treatment and dispensary observation were developed for all diseases. These approaches will significantly reduce infant mortality and improve the quality of life of identified patients during preclinical detection.

Keywords:neonatal screening; hereditary diseases; advanced neonatal screening; regulations; medical genetic center

Funding. The study had no sponsor support.

Conflict of interest. The authors declare no conflict of interests.

For citation: Voronin S.V., Kutsev S.I. Neonatal screening for hereditary diseases in Russia: yesterday, today, and tomorrow. Neonatologiya: novosti, mneniya, obuchenie [Neonatology: News, Opinions, Training]. 2022; 10 (4): 34–9. DOI:


1. Guthrie R. Clinical chemistry/microbiology. Lab Med. 2009; 40 (12): 748–9.

2. Wilson J.M.G., Jungner G. Principles and Practice of Screening for Disease. Geneva: WHO, 1968: 200 р.

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Degtyarev Dmitriy Nikolaevich
Doctor of Medical Sciences, Professor, Deputy Director for Scientific Research of the V.I. Kulakov Obstetrics, Gynecology and Perinatology National Medical Research Center of Ministry of Healthсаre of the Russian Federation, Head of the Chair of Neonatology at the Clinical Institute of Children's Health named after N.F. Filatov, I.M. Sechenov First Moscow State Medical University, Chairman of the Ethics Committee of the Russian Society of Neonatologists, Moscow, Russian Federation

ORCID iD 0000-0001-8975-2425
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