The incidence of Down's syndrome and progress towards its reduction

Down's syndrome is the most common autosomal aberration and single cause of mental retardation in man. There is a close relation between advanced maternal age and Down's syndrome. The limitation of family size has made a considerable impact on the incidence of Down's syndrome. In Denmark in the 1950s, 50% of Down's syndrome cases were born to mothers over the age of 35. The percentage went down to 25% in the 1970s and was reduced by prenatal diagnosis to 8% in the 1980s. For the period 1980-85 we followed the birth prevalence closely for different maternal age groups. The birth prevalence was lowered for the age group over 35, but there was a steady rise for the age groups below 35. Early diagnosis, high rate of survival of light-for-date babies and babies with congenital heart defect, and, possibly, exogenous factors working on gametogenesis might be an explanation. To achieve a reduction in incidence, maternal alpha-fetoprotein (AFP)-serum screening for low values may be a possibility. So far, avoidance, but not primary prevention, of Down's syndrome is available.