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