Down syndrome screening 21 trisomy syndrome risk value 1, 95 high risk

Patient's question:

Down syndrome screening 21 trisomy syndrome risk value 1, 95 high risk

Doctor's answer:

Analysis of the condition:
1. Down syndrome, also known as trisomy 21, refers to a condition where the patient has an extra chromosome in the 21st pair (while the normal number is one pair). Down syndrome screening is performed by measuring the levels of AFP and HCG in the pregnant woman's serum, combined with the mother's age, weight, and gestational age to calculate the risk value. The critical value is 1/275.
Recommendations:
- A value greater than the critical value indicates high risk, while a value lower than it indicates low risk.
- The probability of having Down syndrome (DS) in the general population (under 37 years old) is 1/750.
- If the screening result is high risk, amniocentesis is recommended. However, even if the result is high risk, it does not necessarily mean the child will have Down syndrome. For safety, DS screening is still advised!
- Children with Down syndrome have severe intellectual disabilities, cannot live independently, and often suffer from complex cardiovascular diseases, requiring long-term care from family members. This can impose significant emotional and financial burdens on the family.