Down syndrome, a genetic condition arising from an extra copy of chromosome 21, impacts developmental and physical health. While individuals typically have 46 chromosomes, those with Down syndrome possess 47. Early detection and intervention are vital for enhancing the quality of life for those affected. In India, despite evolving awareness, stigma and misconceptions persist, posing challenges for families. Dr. Deepak Ugra, Pediatrician at Lilavati Hospital, highlights the emotional impact of a Down syndrome diagnosis, emphasizing that it defines only one aspect of an individual.

He stresses the importance of early intervention, including speech and occupational therapy, and educational programs tailored to meet unique needs. Diagnosing Down syndrome involves prenatal tests like nuchal translucency screening and cell-free fetal DNA testing, as well as physical exams and genetic testing. A multidisciplinary approach is crucial for accurate assessment and care planning, ensuring individuals reach their full potential.