CYTOGENETIC STUDY OF PATIENTS DIAGNOSED WITH MAJOR CONGENITAL ANOMALIES IN THE GENETICS SERVICE OF THE HOSPITAL REGIONAL-CUSCO

Abstract

Introduction: Major congenital anomalies (MCAs) of chromosomal origin represent a public health challenge because of their impact on infant mortality, disability and quality of life. Early detection of chromosomal abnormalities (CA) allows better clinical management and genetic counseling. Objective: To study cytogenetically patients diagnosed with major congenital anomalies in the genetics service of the Regional Hospital-Cusco. Method: Quantitative, descriptive, non-experimental study, performed in the Genetics laboratory of the UNSAAC. Sixty peripheral blood samples were analyzed by conventional cytogenetics (GTG banding) during a 12-month period. Specific inclusion and exclusion criteria and informed consent were applied. Results: Chromosomal alterations were detected in 34 patients (56.67 %), predominantly aneuploidies. Structural alterations (deletions, duplications, isochromosomes, rings, marker chromosomes) and polymorphic variants without clinical relevance were also identified. Down syndrome was the most prevalent syndrome (55.88 %), followed by Turner, Edwards, Patau, Wolf-Hirschhorn syndromes and one case of Swyer syndrome with male karyotype. The most frequent reasons for referral were congenital heart disease, intellectual disability and dysmorphic phenotype. The mean maternal age in cases with aneuploidies was 32.25 years. Conclusions: Conventional cytogenetics is an effective and accessible tool for the detection of CA in patients with MCA, especially useful in resource-limited settings. Its implementation strengthens the diagnosis and the comprehensive clinical approach.