Patient's question:
My girlfriend has an older brother who suffers from Down syndrome. There are no other cases of this condition in her parents' family. I would like to ask the doctor: Is the probability of my girlfriend having this condition higher than the general population if she marries and has children? Is this condition sporadic or inevitable? Should she consult a hospital for genetic counseling before pregnancy, or is it only possible to determine it through related tests after pregnancy?Doctor's answer:
It is a disease caused by chromosomal abnormalities (having an extra 21 chromosome). 60% of the affected fetuses abort in the early stages of pregnancy. Survivors exhibit significant intellectual disability, distinctive facial features, growth and development disorders, and multiple congenital anomalies.If genetic testing is required, we know that Down syndrome causes significant harm to children. If treatment is delayed or incorrect, the condition progresses rapidly, posing great harm to young children. Therefore, parents should pay close attention to their children's condition and seek timely medical treatment.