Errores diagnósticos: reflexiones sobre la importancia de la precisión en medicina genética

Abstract

It is widely known that diagnostic errors can have significant repercussions on the lives of patients and their families. In this article, an approach to medical error is made based on the case of a patient with recurrent abortions diagnosed with Turner Syndrome mosaic. Subsequently, a thorough review was carried out using a more precise karyotype, revealing that the patient did not have a chromosomal abnormality. It delves into diagnostic errors in the field of genetic medicine, highlighting the crucial importance of precision in this context. The critical implications of diagnostic failures are examined in detail, proposing substantial reflections to improve accuracy in this specialized field. Through paradigmatic cases, the urgent need for technological advances and the implementation of updated protocols is emphasized. The research underscores the fundamental relevance of genetic medicine in clinical decision-making and advocates for greater awareness of the complexity inherent in genetic diagnoses.