What is Down syndrome?

Patient's question:

Detected high risk of Down syndrome, what does this high risk mean? I want to understand what kind of disease Down syndrome is.

Doctor's answer:

Down syndrome, also known as trisomy 21, is also referred to as congenital idiocy in China. It is one of the most common severe congenital defects. Clinical manifestations include: distinctive facial features in patients, upward slanting eyes, flat nasal bridge, protruding tongue, muscle weakness, and clenched hands. Most patients suffer from severe intellectual disability accompanied by multiple organ abnormalities, such as congenital heart disease, leukemia, and gastrointestinal malformations. This disease is almost prevalent worldwide, with little racial difference. Statistics show that the incidence of chromosomal abnormalities in newborns is 5-6 per 1,000, and Down syndrome occurs in approximately 1/750. Most cases are randomly occurring, but the incidence of chromosomal abnormalities increases with the mother's age. When the mother's average age is above 35, the birth rate of affected children can be as high as 1/350.

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