Student Number : 9703129J - MSc(Med) research report - School of Pathology - Faculty of Health Sciences / Down syndrome is the commonest cause of congenital developmental disability in industrialized countries, where it occurs in approximately 1.4 per 1000 live births. In South Africa, the birth prevalence of Down syndrome was documented as 1.8 and 2.09 per 1000 live births in urban and rural populations, respectively. The physical, psychosocial and emotional burden of Down syndrome on affected families is significant. The aim of this study was to determine the reproductive choices of women with a child with Down syndrome, aged 1 year or older. The survey was conducted using a structured questionnaire. The sample consisted of fifty women; 36 African, 4 Asian and 10 Caucasian. The questionnaire assessed the mothers’ knowledge of Down syndrome prior to diagnosis, what counselling was received and how this knowledge was utilised. Information was also obtained on the mothers’ use of family planning, the knowledge and use of prenatal medical genetic screening and diagnosis, and what decisions would be made in future pregnancies. None of the sample group of mothers had prenatal diagnosis in their pregnancy with their Down syndrome child, but 76% (38) said that they would want prenatal diagnosis in any future pregnancies. Of the 50 mothers, 21 (42%) said they would terminate a pregnancy if Down syndrome had been detected, 26 (52%) said they would not, and 3 (6%) said they were unsure what they would have done if faced with this decision. Of the Caucasian women, 40% (4) said they would opt for termination of pregnancy, 40% (4) said they would not and 20% (2) were unsure. Of the African and Asian women, 52.8% (19) and 75% (3) respectively said they would not terminate an affected fetus. The information from this study can be used to improve the understanding of how women and their families cope with their children with Down syndrome and give insight for the provision of more effective and comprehensive genetic counselling.