What is Down syndrome?
Jul 09, 2025
Source: Cainiu Health
Dr. Zhou Xiaofeng
Introduction
Under normal circumstances, Down syndrome is a common chromosomal abnormality disorder. Pregnant women should undergo Down syndrome screening during pregnancy, such as nuchal translucency (NT) examination in early pregnancy and mid-trimester serum screening. High-risk individuals should further undergo amniocentesis or non-invasive DNA testing for a definitive diagnosis; if the fetus is diagnosed with Down syndrome, the continuation of the pregnancy should be carefully considered under the guidance of a physician.
Generally speaking, Down syndrome is a common chromosomal abnormality disorder. A detailed analysis is as follows:
Down syndrome is a congenital disorder caused by chromosomal abnormalities. Patients typically exhibit distinct facial features such as wide-set eyes, small eye openings, flat nasal bridge, and small ears. They also experience intellectual developmental delays, delayed overall growth and physical development, as well as delayed sexual maturation. Additionally, individuals with Down syndrome are prone to various comorbidities including congenital heart defects, gastrointestinal malformations, hypothyroidism, and their life expectancy may be shorter than average. The occurrence of this condition is closely related to the mother's age during pregnancy; the older the mother, the higher the risk of the fetus being affected. However, some cases may also be associated with genetic factors or environmental influences.
Pregnant women should undergo Down syndrome screening during pregnancy, such as nuchal translucency (NT) testing in early pregnancy and serum screening during the second trimester. High-risk individuals should further undergo amniocentesis or non-invasive DNA testing for definitive diagnosis. If a fetus is diagnosed with Down syndrome, the decision to continue the pregnancy should be carefully considered under a doctor's guidance.
