What does high risk for trisomy 21 mean?

Trisomy 21 is also known as Down syndrome, which means that the patient's 21st pair of sex chromosomes has one vacancy compared to normal people (normal people have one pair). Trisomy 21 is high-risk, reminding the fetus that there is a risk of illness, but it does not mean that the fetus must have problems. It is recommended to go to the hospital for minimally invasive surgery or amniocentesis to confirm whether it is a baby with Down syndrome.

Down syndrome screening is a risk value calculated based on the composition of AFP and HCG in the pregnant woman's blood cells, combined with the pregnant woman's age, weight, and gestational age. The critical point is 1/275. If it is higher than this value, it is high risk; if it is lower than this value, it is low risk. The probability of the general population (under 37 years old) suffering from Down syndrome (DS) is 1/750. If the words "high risk" or "borderline" appear in Down syndrome, it is often risky and further diagnosis is needed to see if the fetus has this disease.

The main risks of trisomy 21 syndrome are: fetuses with trisomy 21 syndrome may suffer miscarriage. The baby was born with congenital idiocy. Men may suffer from undescended testicles from birth to adulthood. There are two main risks in the adult growth period: 1. Problems with testicular spermatogenesis in men, which may cause moderate to severe oligospermia or azoospermia, and thus infertility. 2. Abnormal gonadal hormones, increased gonadotropin and decreased testosterone blood concentrations lead to symptoms such as drowsiness, incoherent thinking, abnormal growth and development, and erectile dysfunction. The way to prevent trisomy 21 syndrome is to undergo cell biology confirmation before in vitro fertilization or cell biology screening before in vitro fertilization.

Trisomy 21 syndrome is directly related to genetic inheritance and pregnancy maintenance. Generally speaking, as long as there is no problem in the family and the baby develops normally, there is no problem. The risk level varies according to the age and physical fitness of the pregnant woman. The probability of occurrence is extremely low, and expectant mothers do not need to worry too much.

Under normal circumstances, if the Down syndrome screening result during pregnancy is a high risk of trisomy 21, amniocentesis should be performed under the guidance of a doctor to further increase the success rate. If the results of minimally invasive testing also show chromosomal abnormalities, you need to consider whether to terminate the pregnancy under the doctor's advice. The success rate of minimally invasive testing is very high. The birth of a fetus with trisomy 21 will place a heavy burden on the family and society, so it is generally recommended to terminate the pregnancy immediately after the diagnosis of fetal chromosomal abnormality.

In general, patients with trisomy 21 syndrome have severe congenital intellectual disabilities, are unable to be independent in food, clothing, housing and transportation, and are accompanied by complex cardiovascular diseases. There is currently no way to prevent and treat this family disease. If the results of Down syndrome screening during pregnancy show that the fetus has chromosomal abnormalities, it is recommended to terminate the pregnancy immediately.