Attitudes of newborns` mothers toward neonatal whole exome testing: results of a combined study

The article presents the results of a combined (mixed) empirical study of attitudes of newborns’ mothers’ toward whole exome testing in neonatology, conducted in 2021-2022 at the «National medical research center for obstetrics, gynecology and perinatology named after academician V.I. Kulakov». The study involved questionnaires of 328 women and 31 semi-structured in-depth interviews with some of them. The study revealed a significant interest of respondents in neonatal genetic testing, which correlates with high trust in scientific knowledge in the field of medical genetics, achievements and discoveries in the field of science and technology. The development and expansion of genetic testing programs in neonatology requires the formulation of informing criteria, taking into account the degree of risk, availability of treatment and other factors. Also, further research is required to assess the risk of specific diseases, which will make it possible to apply the achievements of genetics not only for diagnosis and prevention, but also for family planning.

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