Does a child need to undergo any tests after failing the Down syndrome screening?

Patient's question:

At 18 weeks and 6 days, blood was drawn without fasting for the Down syndrome screening. Results: Trisomy 21 risk 1/230. Amniocentesis was not performed at that time. The child has now been born for 40 days. The newborn screening has passed. What other tests are needed?

Doctor's answer:

Analysis of the condition: Hello! The result of the Down syndrome screening is only a probability result, with an accuracy rate of only 65%. At that time, being high-risk does not necessarily mean the fetus will have Down syndrome.
Advice: Since the child has already been born and all newborn screenings have passed, there is no need to worry too much. For Down syndrome, routine screening is not sufficient; a chromosomal test is required, which can be quite complicated. Children with Down syndrome may have wide-set eyes, a flat nose bridge, small eye fissures, and may be sleepy and have difficulty feeding. In later stages, they may exhibit intellectual disabilities. Please pay attention to observing the child's daily growth and development.

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