What is the probability of a child having Down syndrome?

Patient's question:

My prenatal screening report is out. The free-HCGb result is 14.1, and the MOM value is 1.244. The hAFP result is 21.7, and the MOM value is 0.461. The ONTD risk screening result is negative, with a 21-trisomy risk of 1/390 and an 18-trisomy risk of 1/10,300.

Doctor's answer:

1, Down syndrome is also known as trisomy 21, which means that the patient has one extra chromosome in the 21st pair (while the normal person has one pair). Down syndrome screening is calculated by measuring the levels of AFP and HCG in the pregnant woman's serum, combined with the pregnant woman's age, weight, and gestational age to determine the risk value. 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. 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, but for safety's sake, it is still recommended to undergo DS screening! Children with Down syndrome have severe intellectual disabilities, cannot live independently, and often have complex cardiovascular diseases, requiring long-term care from family members. This can impose a significant emotional and financial burden on the family.

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