Diagnóstico prenatal en pacientes con síndrome de Down. Revisión Sistemática

Abstract

Over time, the association of Down syndrome with chromosome 21 has driven the development of numerous prenatal studies, reflecting the continuous advancements in the field of medicine. These advances have played a crucial role in enabling the early detection of Down syndrome and providing healthcare professionals with more accurate diagnostic tools. Objective: To identify the available prenatal diagnostic techniques for detecting Down syndrome. Methods: A systematic review with a descriptive and retrospective approach was conducted. Databases such as PubMed, Scopus, and Web of Science were used for an exhaustive search of scientific studies, and information published since 2019 was considered with the support of the PRISMA 2020 GUIDE. Results: Eight studies involving prenatal diagnosis techniques for Down syndrome were included, indicating the accuracy of each technique and highlighting the importance of genetic counseling. Conclusions: Prenatal diagnostic techniques for the detection of Down syndrome are divided into non-invasive and invasive methods, showing variability in accuracy according to the stage of gestational age at which the test is performed. The importance of follow-up from the first trimester is emphasized, supported by genetic counseling, which not only guides but also provides the best available options for each couple. Key words: Down syndrome, prenatal method, prenatal diagnosis