Patient's question:
During prenatal screening, one item in the Down syndrome test is called the 21-trisomy risk value, which is 1:95, and it is marked as high risk. I would like to know what this result means and what consequences it may have. Thank you.Doctor's answer:
Hello! This detailed examination is for 21--trisomy syndrome, also known as congenital idiocy or Down syndrome, which is the earliest and most common autosomal disease discovered in humans. The incidence rate is 1·6%--1·2%, and the incidence rate increases with the age of the pregnant mother. This detailed examination indicates a high risk, proving that the child you are carrying has a higher possibility of suffering from this disease. However, in terms of domestic examinations, the detection rate is 48%--83%, which means that even if the examination is negative, it does not necessarily prove that the child does not suffer from this disease. Additionally, this examination has a 5% false-positive rate, meaning that even if the examination indicates a high risk, it is still possible to give birth to a normal child. Therefore, it is recommended that you undergo a re-examination.