Questions

What is Down syndrome? What does it mean if the test for Down syndrome shows high risk?

Answers

Down syndrome, also referred to as trisomy 21, is a common chromosomal abnormality disorder. Approximately one in every 750 newborns may have Down syndrome. The main characteristics of this condition include distinctive facial features such as upward slanting eyes and a flat nasal bridge, as well as delayed intellectual and physical development. The term “high risk” for Down syndrome typically refers to the result of a screening test during pregnancy that evaluates a higher likelihood of giving birth to a child with Down syndrome. This is usually determined based on the mother’s age and certain blood test indicators. If the screening result indicates a high risk, it is often recommended to undergo further diagnostic tests, such as amniocentesis or chorionic villus sampling.