Patient's question:
Sampling date: 2013-10-14 The test resultis the risk of Down syndrome (trisomy 21) exceeding the screening standard. However, there is no such phenomenon in our family members. Question: How should this result be explained?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 cutoff value is 1/275. A value greater than this indicates high risk, while a value lower than this indicates low risk. The probability of having Down syndrome (DS) in the general population (under 37 years old) is 1/750.
Recommendations:
If the screening result is high risk, it is recommended to undergo amniocentesis. However, even if the result is high risk, it does not necessarily mean the child has Down syndrome. For safety's sake, it is still advisable to undergo DS screening. 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.