Chromosomal aneuploidies: A tertiary care center study

Among the chromosomal aneuploidies Down syndrome is the most common type. This study was conducted to detect the frequency of chromosomal abnormalities in the paediatric patients in one year duration at a tertiary care centre. In cytogenetic lab, clinically suspected cases were referred from different department like pediatrics, neonataology, obstetrics and gynecology for Karyotyping test for the confirmation of aneuploidies. They were sampled for Karyotyping. Incidence of aneuploidies among live-births in a year (April 2023-March2024) was 4.68/1000. Down syndrome with trisomy+21 was found in all individual (100%) of 12 cases. Among cardiac disorder, ASD, VSD and VSD+ ASD were (complex cardiac defect) account for 33.33%. Other common clinical features were also seen like slanting eyes, sandal gap, mangloid facials, single simian crease, low set ears, depressed nasal bridge, and protruding tongue In this study prevalence of DS in Chhattisgarh were 4.68/1000. Most of the cases of the study were born from mother of younger age (19-27yrs). For early diagnosis clinician should counsel the younger pregnant women for such aneuploidies so that they can take appropriate measures.