Medical Genetics is a specialized branch of medicine, continuously and rapidly evolving, that focuses on the study, diagnosis, management, and prevention of diseases of genetic origin, namely those caused by alterations in DNA or chromosomes. This field provides crucial and increasingly precise answers in various clinical areas. In prenatal diagnosis, it allows for the identification of chromosomal anomalies (such as Down syndrome) or genetic diseases in the fetus. In pediatrics, it aids in diagnosing rare diseases and malformation syndromes. In adulthood, it is essential for assessing hereditary cancer risk (for example, breast and ovarian cancers linked to BRCA genes), diagnosing hereditary neurodegenerative diseases, genetic cardiomyopathies, and metabolic diseases. Complex tests are performed, such as karyotype analysis (to study the number and structure of chromosomes), screening for mutations responsible for common diseases like cystic fibrosis, and analysis of specific chromosomal alterations such as Y chromosome microdeletion, important in the assessment of male infertility. Genetic counseling supports the patient and family in interpreting results and understanding clinical and reproductive implications.
