What does it mean to have a borderline risk for trisomy 18 in the唐氏筛查 (Down syndrome screening)?
Disease description:
At six months pregnant, when I went for a checkup, the doctor mentioned that there was a borderline risk for trisomy 18 in the Down syndrome screening, indicating a possible risk of Down syndrome in the baby. I really want to ask, what does a borderline risk for trisomy 18 in Down syndrome screening mean?
Doctor's answer (1)
Dr. Zhang Lu
The borderline risk of Edwards syndrome (trisomy 18) in Down syndrome screening refers to a borderline condition identified during prenatal screening, where the risk of the fetus having trisomy 18 falls between high and low risk.
When the risk value falls between 1:361 and 1:1000, it is referred to as a borderline risk for trisomy 18. This indicates a relatively higher probability of the fetus having trisomy 18, but it does not reach the threshold for a high-risk classification. Since the accuracy of Down syndrome screening is limited, pregnant women are usually advised to undergo further non-invasive DNA testing or amniocentesis for a definitive diagnosis when this occurs.
If trisomy 18 is confirmed, termination of pregnancy may need to be considered, as this condition leads to severe intellectual and physical developmental disabilities, as well as a high mortality rate in newborns. It is recommended to visit a qualified hospital and follow the guidance of specialized physicians for management.
