Português

• Autor(a) principal: de Lima Bispo da Silva , Aparecida Fernanda
• Data de Publicação: 2023
• Outros Autores: Trovó de Marqui, Alessandra Bernadete
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Saúde (Santa Maria)
• Texto Completo: https://periodicos.ufsm.br/revistasaude/article/view/71248
• topic: Síndrome da Trissomia do Cromossomo 13; Síndrome da Trissomia do Cromossomo 18; Mortalidade; Sobrevivência

Patau and Edwards Syndromes are genetic conditions resulting primarily from trisomies involving chromosomes 13 and 18, respectively. These chromosomal disorders are severe, there are several concomitant malformations, the prognosis is usually poor, which can result in high rates of fetal and neonatal losses and early postnatal deaths. Thus, the present study aims to present information on survival and mortality in trisomies 13 and 18, including factors that interfere in these variables. This is a theoretical study, of the literature review type, carried out in the PubMed database using the following descriptors: trisomy 13 and trisomy 18 and survival and mortality. Articles published in the last 10 years, in the original article category and in Portuguese and English, were considered. In summary, the 24 studies revealed that there was a predominance of death, mainly in the first days of life, for both chromosomal anomalies. A higher survival was observed in individuals with mainly mosaic karyotypes and translocation, as well as female gender, higher birth weight, birth after 36 gestational weeks and those undergoing the intervention. Risk factors for early mortality were congenital anomalies, mainly heart defect and omphalocele, low or very low birth weight, gestational age/prematurity, and male gender. Knowledge of possible outcomes and complications in these conditions can help parents and multidisciplinary teams to make decisions related to the future management of these trisomies, aiming to reduce early mortality, increase survival and improve the quality of life of these patients. Trisomies 13 and 18 are associated with high mortality rates, low survival, and there are risk factors that affect these variables in neonates with these autosomal aneuploidies.