Identification of Genetic Variants Associated with Pregnancy Loss

• Autor(a) principal: Vidal, Sarah Vitarelli Percegoni
• Data de Publicação: 2023
• Outros Autores: Tinum Santos, Thais, Andrade Diniz, Patrícia, Castro Silva, Larissa, Santos, Ayla Mel Gomes dos, Souza, Aline de Jesus, de Souza Ventura, Simone, Avelar, Lívia das Graças Amaral, Martins, Aline Aparecida Silva
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Brazilian Journal of Implantology and Health Sciences
• Texto Completo: https://bjihs.emnuvens.com.br/bjihs/article/view/623
• topic: Perda Gestacional; Alterações Cromossômicas; Gravidez; Pregnancy Loss; Chromosomal Alterations; Pregnancy

Miscarriage can be associated with a variety of genetic factors, hematological disorders, including changes in the anatomy of the uterus. Furthermore, there is a relationship between maternal age and reproductive health.Epidemiological studies reveal high rates of subfertility and spontaneous abortions linked to a range of these factors. Therefore, this study aims to investigate the genetic factors associated with pregnancy loss and promote the dissemination of results in a language accessible to the population, through a podcast channel with the aim of increasing awareness and facilitating access to appropriate health services. The study was performed through a narrative literature review. The development of the podcast channel was performed through recordings in an audiovisual environment with scripts developed based on the research results. Cytogenetic abnormalities representing around 50% of fetal deaths in the first trimester and 6% to 13% of stillbirths. Among the main alterations are trisomies of chromosomes 13, 18, 16, 22 and monosomy of chromosome X. Mutations in genes related to the cell cycle are also related to pregnancy loss due to the fact that they trigger serious congenital and developmental defects in embryos. Furthermore, hematological changes, such as thrombophilia and antiphospholipid syndrome, are related to pregnancy loss. This research unveiled the complexity of genetic interactions in the context of miscarriage, emphasizing the urgent need for interdisciplinary collaborations. The identification of specific genetic markers holds the potential to enhance screening and therapeutic strategies, underscoring the importance and recognition of the interconnection between genetic factors and physiological events during pregnancy.