Question
My girlfriend has an older brother with Down syndrome, and her parents’ family has no history of the condition. Doctor, is the probability of her having a child with this disease higher than that of the general population? Is this condition sporadic or inevitable? Do we need to undergo genetic counseling before pregnancy, or can we only wait until after pregnancy to perform related checks?
Answer
Down syndrome is a condition caused by chromosomal abnormalities (an extra 21st chromosome). Approximately 60% of affected infants are aborted in the early stages of pregnancy, with survivors showing significant intellectual disability, distinctive facial features, growth and developmental disorders, and multiple malformations. It is known that Down syndrome can cause significant harm to children. If not treated promptly or with incorrect treatment methods, its progression is rapid, posing great harm to infants. Therefore, parents should pay close attention to their child’s condition and seek timely treatment.