Patient's question:
Doctor, hello. I am from the Wenshan Prefecture Maternal and Child Health Hospital for the blood test for Down syndrome screening. It was sent to your hospital for testing. One of the test items: Down syndrome. Screening result: high risk, please consult genetic counseling. Age risk: 1:3000, risk value: 1:170, risk cutoff value: 1:270. Do I have to do an amniocentesis?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 calculating the risk value based on the levels of AFP and HCG in the pregnant woman's serum, combined with the pregnant woman's age, weight, and gestational age. The critical 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.
Guidance:
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 will have Down syndrome. For safety's sake, it is still advisable to conduct DS screening! Children with Down syndrome suffer from severe intellectual disabilities, inability to live independently, and are often accompanied by complex cardiovascular diseases. They require long-term care from family members, which can impose significant emotional and financial burdens on the family.