What to do if Down syndrome screening result is high

For a pregnant woman, when she is pregnant, she wants to be healthier and stay away from many genetic diseases. So she wants to fully understand the results of Down syndrome screening and what to do if the disease appears to be high. The specific answers are given below and you can continue to learn more.

Down syndrome screening often uses 1:270 as the cut-off value (i.e. a test result greater than 1:270 indicates a high risk of Down syndrome), but due to the limited specificity and sensitivity of the detection technology, the accuracy of Down syndrome screening is not high.

Guidance: The best time to draw amniotic fluid for prenatal diagnosis is between 16 and 20 weeks of pregnancy. Because the fetus is small at this time and there is relatively more amniotic fluid, the fetus floats in the amniotic fluid and is surrounded by a wider amniotic fluid belt. It is not easy to injure the fetus when the amniotic fluid is extracted with a needle. In addition, the proportion of active cells in the amniotic fluid is the largest during this period, and the survival rate of cell culture is high. It can be used for slide preparation and staining, and for fetal chromosome karyotype analysis, chromosome genetic disease diagnosis and gender determination. Amniotic fluid cell DNA can also be used to diagnose genetic and metabolic diseases. By measuring alpha-fetoprotein in amniotic fluid, it is also possible to diagnose open neural tube defects in the fetus. Whether the baby is Down syndrome depends on the results of the amniotic fluid test. If the results are normal, then there is nothing wrong.

Fetuses with Down syndrome are not exclusive to older pregnant women. Although older pregnant women over 35 years old are closely related to Down syndrome, the older the age, the greater the chance of giving birth to a child with Down syndrome. However, young women may also give birth to children with Down syndrome, and only 20% of Down syndrome occurs in older pregnant women, while the other 80% of Down syndrome fetuses are born to young pregnant women under 35 years old.

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 use a computer to accurately calculate the risk of each pregnant woman carrying a fetus with Down syndrome. The normal value of alpha-fetoprotein should be greater than 2.5MoM. The lower the test value, the higher the chance that the fetus will suffer from Down syndrome. The higher the level of chorionic gonadotropin, the higher the chance that the fetus will have Down syndrome. In addition, the doctor will input the alpha-fetoprotein value, human chorionic gonadotropin value, as well as the pregnant woman's age, weight, and weeks of pregnancy into the computer, which will calculate the risk of the fetus developing Down syndrome. If the test results show that the risk is lower than 1/270, it means that the risk is relatively low and the chance of the fetus developing Down syndrome is less than 1%. However, if the risk is higher than 1/270, it means that the fetus is at high risk of disease and further amniocentesis or chorionic villus sampling should be performed.

The above is a comprehensive introduction to what to do if the Down syndrome screening results are high. If a pregnant woman has a high Down syndrome screening result, she must pay attention to it. First, she should go to a large hospital for a comprehensive examination. After finding out the cause, she can receive correct symptomatic treatment so that her baby will be healthier in the future.