Down syndrome (DS) is a relatively common chromosomal condition, which can be diagnosed prenatally. However, little is known about the diagnosis of the condition in developing countries. This qualitative study explored parents' experiences of the diagnosis of DS in Pakistan. Fifteen mothers and fifteen fathers of children with DS had semistructured interviews, which were analysed using thematic analysis. All the parents received their child's diagnosis after birth, ranging from the postnatal period to 7 years of age. Parents recalled receiving little or no information at the time of diagnosis, leading to misunderstandings about the cause and nature of their child's condition. Some parents referred to their child being "Mongol" and were unaware of "Down syndrome" as the more appropriate term for the condition. Use of such terms for DS restricted parents' ability to source further information about the condition. Many parents showed poor understanding of the aetiology and prognosis of the condition. Improved training for healthcare professionals in recognising key features of DS in the neonatal period or in early childhood could enable earlier diagnosis of the condition. In addition, provision of accurate information in a sensitive manner following diagnosis could enable parents to optimise their child's well-being.