Criteria of phenotype assessment of newborn for the group formation with increased risk of genetic diseases

Abstract

Newborn screening for genetic diseases is widely used in neonatal practice around the world. It traditionally includes the study of biochemical markers, which level suggests genetic diseases. In recent years, the possibility of expanding screening through the use of various methods of molecular genetic testing, including new-generation sequencing (NGS) discussed. However, advanced genetic screening and other diagnostic methods require the identification of a specific high-risk group. This article presents a version of the assessment of the phenotype of newborn infants and clinical criteria for inclusion in the group of increased risk of genetic diseases.

Keywords:neonatal phenotype; neonatal screening; genetic diseases; minor developmental anomalies; whole exome sequencing; next-generation sequencing

Funding. The work was carried out within the framework of the state assignment No. 121092400060-5.

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

For citation: Pomerantseva E.A., Dokshukina A.A., Degtyareva A.V., Maslennikov D.N., Trofimov D.Yu., Degtyarev D.N. Criteria of phenotype assessment of newborn for the group formation with increased risk of genetic diseases. Neonatologiya: novosti, mneniya, obuchenie [Neonatology: News, Opinions, Training]. 2022; 10 (4): 47–53. DOI: https://doi.org/10.33029/2308-2402-2022-10-4-47-53 (in Russian)

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CHIEF EDITOR
CHIEF EDITOR
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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