Question
A 6-month-old baby cannot lift her head, can roll over, and has normal appetite, with no significant abnormalities. However, she sometimes trembles. What tests should be conducted if there is a high risk of Down syndrome screening?
Answer
Disease Analysis: Down syndrome screening can detect 60-70% of Down syndrome children. It is important to note that Down syndrome screening can only help determine the probability of a fetus having Down syndrome, but it cannot confirm whether the fetus has the condition. When blood test indices are elevated, the chance of having a “Down” baby is higher, but it does not necessarily mean the fetus has a problem. On the other hand, even if the test indices are normal, it does not guarantee that the fetus will not have the condition. Guidance: Pregnant women whose Down syndrome screening indices exceed the normal range should undergo amniocentesis or chorionic villus sampling. Only if the results of amniocentesis or chorionic villus sampling are normal can the possibility of Down syndrome be ruled out with certainty. The best time for prenatal diagnosis to draw amniotic fluid is between 16 to 20 weeks of pregnancy.