What should I do if I have a high risk of Down's syndrome?

During pregnancy, in order to avoid fetal malformations or intellectual problems, a number of examinations are required. Among them, Down syndrome screening is to avoid the occurrence of children with Down syndrome. So, what should you do if you have a high risk of Down syndrome during screening? If one of the data is higher, you need to consult a doctor to determine whether the fetus is a Down syndrome baby. A high value in a certain item may also be due to other physiological reactions.

Down syndrome screening is the abbreviation for prenatal screening test for Down syndrome. The purpose is to test the blood of pregnant women to detect the concentrations of alpha-fetoprotein, human chorionic gonadotropin and free estriol in the maternal serum, and to determine the risk factor of the fetus suffering from congenital idiocy and neural tube defects based on the age, weight, gestational age of the pregnant woman.

Currently, the Down syndrome screening test tests the concentration of alpha-fetoprotein (AFP) and human chorionic gonadotropin (β-hCG) in the pregnant woman's blood, and combines it with the pregnant woman's age to accurately calculate the risk of the pregnant woman carrying a fetus with Down syndrome using a computer.

The alpha-fetoprotein (AFP) generally ranges from 0.7 to 2.5 MOM (multiples of the median), and the higher the chorionic gonadotropin, the higher the chance that the fetus will have Down syndrome. In addition, the alpha-fetoprotein value, human chorionic gonadotropin value, and the pregnant woman's age, weight, and weeks of pregnancy can be entered into the computer, which will calculate the risk of the fetus developing Down syndrome. Different hospitals use different standards. If the probability indicated by the test result (such as 1/100) is greater than the normal reference value probability (such as 1/275), the result is positive, indicating that the fetus has a higher chance of being sick and further amniocentesis or chorionic villus sampling should be performed.

Detection Methods

Amniocentesis: extract amniotic fluid, culture the cells shed by the fetus in the amniotic fluid, and test the chromosomes of the cells (test the 21 chromosomes of the fetus). Extracting amniotic fluid: 20 ml of amniotic fluid is collected. The risks are possible infection, amniotic fluid leakage, miscarriage, and the possibility of miscarriage (probability 1/1000). Cultivating the cells shed by the fetus in the amniotic fluid has a success rate of 98/100. Test the chromosomes of cells (test the 21 chromosomes of the fetus), with an accuracy rate of 100/100.