Patient's question:
Down syndrome screening result, 1:190 high risk for trisomy 21 and open neural defect - what does it mean?I have always been healthy
Doctor's answer:
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 calculated by measuring the levels of AFP, HCG, and uE3 in a pregnant woman's serum, combined with the mother's age, weight, and gestational age to determine the risk value. The cutoff value is 1/275 (this number may vary depending on different methodologies). 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 35 years old) is 1/750.Down syndrome is a sporadic condition, so every pregnant woman has the potential to give birth to a "Down syndrome child." The likelihood of having a child with Down syndrome increases as the mother's age advances.