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The parents of the affected individual are typically genetically normal. The extra chromosome occurs by chance. The possibility increases from less than 0.1% in 20-year-old mothers to 3% in those age 45. There is no known behavioral activity or environmental factor that changes the possibility. Down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing or after birth by direct observation and genetic testing. Since the introduction of screening, pregnancies with the diagnosis are often terminated. Regular screening for health problems common in Down syndrome is recommended throughout the person's life. There is no cure for Down syndrome. Education and proper care have been shown to improve quality of life. Some children with Down syndrome are educated in typical school classes, while others require more specialized education. Some individuals with Down syndrome graduate from high school and a few attend post-secondary education. In adulthood, about 20% in the United States do paid work in some capacity with many requiring a sheltered work environment. Support in financial and legal matters is often needed. Life expectancy is around 50 to 60 years in the developed world with proper health care. Down syndrome is one of the most common chromosome abnormalities in humans. It occurs in about one per 1000 babies born each year. In 2015, Down syndrome was present in 5.4 million individuals and resulted in 27,000 deaths down from 43,000 deaths in 1990. It is named after John Langdon Down, the British doctor who fully described the syndrome in 1866. Some aspects of the condition were described earlier by Jean-tienne Dominique Esquirol in 1838 and douard Sguin in 1844. In 1957, the genetic cause of Down syndrome, an extra copy of chromosome 21, was discovered.

Males with Down syndrome usually do not father children, while females have lower rates of fertility relative to those who are unaffected. Fertility is estimated to be present in 3050% of females. Menopause typically occurs at an earlier age. The poor fertility in males is thought to be due to problems with sperm development; however, it may also be related to not being sexually active. As of 2006, three instances of males with Down syndrome fathering children and 26 cases of females having children have been reported. Without assisted reproductive technologies, around half of the children of someone with Down syndrome will also have the syndrome.

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