What to do if you are at high risk for Down syndrome

Down syndrome screening is a widely used method for screening children with Down syndrome. Down syndrome screening is not actually the definitive test for diagnosing children. The success rate of Down syndrome screening is around 70%. If the probability of Down syndrome screening out a baby with Down syndrome is high, then you'd better do an amniocentesis test again, which can finally determine whether it is a baby with Down syndrome. This article will explain in detail what to do if high risk is detected.

1. What should I do if I have a high risk of Down syndrome?

The incidence of Down syndrome is not directly related to race, economic status, etc. It is estimated that one in every 660 newborns suffers from Down syndrome, making it the most common chromosomal abnormality. Giving birth at an older age increases the risk of the baby having Down syndrome. The incidence rate is 1/1250 among those aged 20 to 24, 1/400 at 35, 1/106 at 40, 1/30 at 45, and 1/11 at 49. The reason is that as the age of pregnant women increases, the phenomenon of sex chromosome non-disjunction will increase during the production of oocytes. However, on the other hand, about 80% of babies with the syndrome are born to pregnant women under 35 years old. This is related to the high rate of pregnancy among women under 35 years old.

In addition, there are also cases where the unnecessary sex chromosomes come from the father's side, and the ratio of paternal factors to maternal factors is 1:4. Families with a potential high risk of illness are generally advised to undergo cell biology consultation and genetic testing such as "amniotic fluid diagnosis for pregnant women".

When the Down syndrome screening data shows "high risk", expectant mothers should not be overly anxious. This means that the probability of the fetus suffering from Down syndrome is higher than 1/270, which does not necessarily mean that the fetus is a Down syndrome baby. When a high-risk situation occurs, the next thing the pregnant mother needs to do is to use amniocentesis to determine whether the baby is indeed Down syndrome. The most common technology for prenatal examination at present is amniocentesis, that is, under the guidance of B-ultrasound, a needle is inserted into the amniotic fluid of the pregnant woman through the abdomen to extract the amniotic fluid and perform sex chromosome analysis on the fetal cells. Amniocentesis is suitable for pregnant women between 16 and 20 weeks of gestation.

When Down syndrome screening shows a high risk and amniocentesis confirms that the fetus is indeed a Down syndrome baby, the best solution at this stage is to terminate the pregnancy.