Patient's question:
What is a Down syndrome baby and what causes it?Doctor's answer:
Down syndrome screening is a method that involves drawing pregnant women's blood serum, detecting the concentration of alpha-fetoprotein (AFP) and human chorionic gonadotropin (HCG) in the maternal serum, and calculating the risk coefficient for giving birth to a child with Down syndrome by combining the pregnant woman's due date, age, weight, and gestational age at the time of blood collection. The optimal time for screening is between the 15th and 20th weeks of pregnancy. Generally, pregnant women can receive screening results within one week of blood collection. If the result is high-risk, there is no need to panic, as further tests such as amniocentesis and fetal chromosome analysis are required to confirm the diagnosis. Children with Down syndrome have severe intellectual disabilities, inability to live independently, and are often accompanied by complex cardiovascular diseases, requiring long-term care from family members, which imposes significant mental and financial burdens on the family.By drawing pregnant women's blood serum and detecting the concentration of AFP and HCG in the maternal serum, while combining the pregnant woman's due date, age, and gestational age at the time of blood collection, the risk coefficient for "Down syndrome children" is calculated. This method can identify 80% of Down syndrome cases. Down syndrome, also known as trisomy 21, refers to a condition where patients have an extra chromosome (one more than the normal pair) on chromosome 21 (normal people have one pair).
Down syndrome screening is based on the levels of AFP and HCG in the pregnant woman's serum, combined with her age, weight, and gestational age to calculate a risk value. The critical value is 1/275. A value above this is considered high-risk, while a value below it is considered low-risk. The probability of having Down syndrome (DS) in the general population (under 37 years old) is 1/750.
Down screening is a shortened term for prenatal screening for Down syndrome. Its purpose is to determine the risk of the fetus having Down syndrome through blood tests of the pregnant woman. If the down screening results indicate a high risk of the fetus having Down syndrome, further confirmatory tests such as amniocentesis or chorionic villus sampling should be conducted.
Starting from the 16th week of pregnancy, as expectant mothers, among all normal pregnant women, there is a very important screening test, which is the Down syndrome screening. Down syndrome screening aims to identify children with Down syndrome. Down syndrome is an occasional disease, so every pregnant woman has the possibility of giving birth to a "Down syndrome child."