Question
A few days ago, I took my wife for a Down syndrome screening at 24 weeks of pregnancy, and the result indicated a high risk. Does this mean we have to do an amniocentesis?
Answer
The Down syndrome screening is primarily used to predict risks of congenital neural tube defects and other conditions, serving as a risk assessment method rather than a diagnostic tool. It is just an initial screening for Trisomy 21. A high risk does not necessarily confirm the presence of Trisomy 21. If the Down syndrome screening shows a high risk, further tests such as non-invasive prenatal testing or amniocentesis are required for diagnosis. The Down syndrome screening involves extracting blood from pregnant women to test the concentrations of alpha-fetoprotein, human chorionic gonadotropin, and free estriol in maternal serum, and then combining this with the woman’s due date, weight, age, and gestational age at the time of blood collection to estimate the risk of having a fetus with congenital defects. Additionally, pregnant women should maintain a positive attitude, eat a balanced diet, consume high-quality protein foods, rest well, and avoid overexertion. Regular prenatal check-ups are also important.