Patient's question:
I am four months pregnant and have been screened with a 1 in 44 chance of having Down syndrome. I am very worried. How should I handle this situation?Doctor's answer:
Analysis of the condition: 1, Down syndrome is also known as trisomy 21, which means the patient has an extra chromosome in the 21st pair (while the normal number is one pair). Down syndrome screening is calculated by measuring the levels of AFP and HCG in the pregnant woman's serum, combined with the woman's age, weight, and gestational age to determine the risk value. The critical value is 1/275.Recommendations: A value greater than this indicates a high risk, while a value lower than this indicates a 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, it is recommended to undergo amniocentesis. However, even if the result is high-risk, it does not necessarily mean the baby has Down syndrome, but for safety, 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.