Abstract

BELLAFRONTE, Elisangela et al. Genetic counseling for down syndrome: integrative review of the literature. Psic., Saúde & Doenças [online]. 2023, vol.24, n.1, pp.253-266.  Epub June 30, 2023. ISSN 1645-0086.  https://doi.org/10.15309/23psd240122.

Down syndrome presents a high degree of variability in phenotype, may exhibit specific congenital abnormalities. The objective was to search for scientific evidence describing the health education guidelines for genetic counseling in Down syndrome. Integrative review of the literature was conducted using Scielo and Pubmed database, in response to the guiding question: What are the health education guidelines available for genetic counseling in Down syndrome? Articles were chosen in english and portuguese, bolleans operators AND/OR, between 2008 untill 2019. Were found 55 articles, most of which (80%) dealt with prenatal genetic counseling. The studies emphasized orientations directed to parents, professionals and communities: awareness of parents and community; prior knowledge of parents and their opinions to list information needs; formal aspects related to essential exams and therapeutic interventions; informal aspects of psychotherapeutic services to families and ways to report the diagnosis of the syndrome. Special attention should be given to the orientations sought by the parents in the studies, which highlighted the abilities and potential future of this children. It is pointed out that professionals need to be trained and sensitized to carry out genetic counseling, especially postnatal care, which has proved to be insipient in this study.

Keywords : Down syndrome; Genetic counseling; Health education.

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