Question
At 16+6 weeks of pregnancy, a Down Syndrome screening test was conducted, and the report showed a high risk of neural tube defect, with an AFPMOM of 3.55. The doctor recommended an ultrasound examination at 20 weeks, but the waiting period was agonizing. I would like to inquire if there are other appropriate testing methods that can be used to rule out the risk early.
Answer
Based on the test results, the risk of neural tube defect is high, which may increase the risk of the fetus having Down Syndrome. Although high-resolution ultrasound can be used to check the fetus’s development, it cannot be used as a definitive diagnostic tool. It is recommended to undergo an amniocentesis soon, which is an invasive procedure that can determine the fetus’s chromosomal status by analyzing fetal cells in the amniotic fluid, thereby excluding or confirming a diagnosis of Down Syndrome. Amniocentesis can also be used to diagnose other genetic and metabolic diseases and to test for open neural tube defects.