Symptoms of pregnant women with Down syndrome

Down syndrome is also known as trisomy 21. It is caused by a chromosomal mutation when the male sperm combines with the female egg. It is called trisomy 21 because the 21st chromosome pair should have three chromosomes instead of two. Children with Down syndrome generally have low IQ and developmental delay. Let's look at the symptoms of pregnant women with Down syndrome.

1. Down syndrome screening involves taking maternal blood in the second trimester of pregnancy and testing for biochemical markers such as human chorionic gonadotropin, alpha-fetoprotein, or estrogen, inhibin, etc. The risk of congenital idiocy (trisomy 21) in the fetus is calculated based on the results, combined with the gestational age and maternal age.

2. The Down syndrome test is done by testing the concentration of alpha-fetoprotein (AFP) and human chorionic gonadotropin (β-hCG) in the pregnant woman's blood, so the pregnant woman only needs to draw a small amount of blood for the test and there is no danger. Unlike general physical examinations involving liver function, Down syndrome screening does not require fasting. Therefore, there is no other special preparation before the operation. If you have any questions about the details, it is recommended that you consult the doctor directly.

Down syndrome screening includes two parts: 1. The mother’s blood screening, which is what we usually talk about as “Down syndrome screening”. After drawing the mother’s blood for testing, the risk of Down syndrome is calculated by a computer.

2. Ultrasound screening. Ultrasound is used to detect whether the fetus has any malformations or markers related to Down syndrome. Because most children with Down syndrome will show symptoms under ultrasound. Either there is a deformity or there are markers: such as strong echo spots in the heart, widened renal pelvis, and choroidal cysts on the head.

Asymptomatic. A Down syndrome screening will be done at 13-16 weeks of pregnancy. If the risk is high, amniocentesis can be done. The accuracy of the Down syndrome screening result is not high, while the accuracy of amniocentesis is slightly higher. Just pay attention to the check-up when the time comes.