Pataus Syndrome

Patau syndrome, also known as Trisomy 13, is a rare chromosomal disorder caused by the presence of an additional copy of chromosome 13, resulting in multiple congenital anomalies and severe neurodevelopmental impairment. The condition arises due to meiotic nondisjunction, mosaicism, or chromosomal translocation, with full trisomy being the most common form. The prognosis is extremely poor, as the majority of affected infants do not survive beyond the first year of life due to severe systemic complications. Diagnosis is typically established prenatally through ultrasonography and confirmed by cytogenetic analysis using procedures such as amniocentesis or chorionic villus sampling. Management is primarily supportive and focuses on symptom relief, family counselling, and palliative care. Understanding the clinical features, diagnosis, and outcomes of Patau syndrome is essential for healthcare professionals to provide appropriate care and informed decision-making support to affected families.