Indicaciones, beneficios y riesgos de la amniocentesis en el diagnóstico precoz de trastornos genéticos.

Abstract

INTRODUCTION: Genetic diseases are alterations in the genetic material that require medical, educational or social intervention. They are divided into chromosomal, monogenic and multifactorial, with examples such as Down syndrome and cystic fibrosis. Prenatal diagnosis is essential to detect these alterations, and amniocentesis, performed in the second trimester, is a key invasive technique to identify chromosomal abnormalities, especially in women aged 35 years. Research focuses on amniocentesis as a tool for early diagnosis of genetic diseases. OBJECTIVE: To analyze the medical indications, benefits and risks of amniocentesis as a prenatal diagnostic tool for the detection of genetic disorders. METHODOLOGY: Descriptive study based on the review of scientific documents and articles published in the last 5 years on various platforms such as Google academic, Scielo, etc. CONCLUSION: Amniocentesis is essential for the early diagnosis of genetic disorders, especially in cases of advanced maternal age or family history. It offers benefits by detecting chromosomal abnormalities, allowing informed decisions about pregnancy, although its risks, such as infections and bleeding, must be carefully evaluated. In general, it provides a balance between benefits and risks, requiring an ethical and personalized approach,