Is a high risk test in Down syndrome screening serious?

The impact of birth defects on babies is very important for the family, and the family will also face various burdens and blows. Therefore, in order to detect and treat early and take protective measures, this is the most basic examination to be done for Down syndrome screening. Perhaps many people think that Down syndrome screening is unnecessary, but if there is a similar situation in the family, the patient must go for Down syndrome screening. There is no guarantee that all the results will be the same, and there will be different manifestations.

What should I do if one of the items in Down syndrome screening is high risk?

Down syndrome screening is performed by drawing serum from pregnant women, testing the concentrations of alpha-fetoprotein, chorionic gonadotropin and free estriol in the maternal serum, and calculating the risk of giving birth to a baby with congenital idiocy with Down syndrome based on the pregnant woman's due date, weight, age, weight and gestational age at the time of blood collection.

1. The purpose of Down syndrome screening during pregnancy is to detect as early as possible whether the fetus is likely to have Down syndrome. But don't worry too much. It is normal for one item in the Down syndrome screening to show high risk.

2. If you are still worried, you can undergo non-invasive prenatal genetic testing, which is done by collecting peripheral blood (5 ml) from the pregnant woman, extracting free DNA, using a new generation of high-throughput sequencing technology, and combining it with bioinformatics analysis to determine the risk of the fetus suffering from chromosomal aneuploidy (trisomy 21, also known as Down syndrome, trisomy 18, trisomy 13). The best detection time for this method is in the early and middle stages of pregnancy. It has the characteristics of non-invasive sampling, no risk of miscarriage, high sensitivity, and high accuracy.

3. Amniocentesis is also a method that detects the child's chromosomes by directly extracting the child's exfoliated cells from the amniotic fluid. Its accuracy is the gold standard for clinical diagnosis of chromosomal abnormalities in children. However, it often causes abdominal pain and has a miscarriage rate of 1-2%, which is riskier than other tests.