What are the manifestations of Down’s syndrome? Ning Liu, Center for Genetics and Prenatal Diagnosis, Zhengzhou University First Affiliated Hospital
Down syndrome is a chromosomal abnormality, also known as congenital stupidity, or trisomy 21. Normal people have 46 chromosomes in each cell, with 23 pairs, while people with Down syndrome have an extra chromosome 21. Because Down syndrome is a chromosomal abnormality, it cannot be treated with medication or surgery.
What is Down syndrome?
Patients with Down syndrome usually exhibit mental retardation and have certain characteristics in their physical appearance, showing a flat nose, a large tongue, often tongue-stretching movements, and a short stature. Many of the body’s organs are also defective, such as heart disease, intestinal disorders and so on. They are usually unable to take care of themselves and require long-term care from their families. Every pregnant woman has a chance of having a baby with Down syndrome, and the older the mother, the higher the chance of the baby having the disease.
What is Down syndrome screening?
Down’s syndrome screening is a screening test for all pregnant women (regardless of age) that checks the mother’s blood for human chorionic gonadotropin (fβ-HCG), alpha-fetoprotein (AFP) and unconjugated estriol (uE3) at 15 to 20+6 weeks of mid-trimester and uses screening risk software to calculate the chance of the fetus having Down’s syndrome. The detection rate is 70%.
Are there other ways to screen for Down’s syndrome?
There are other methods to determine directly whether your baby has Down’s syndrome through amniocentesis, chorionic villus biopsy or cord blood test, but all of these methods carry some risk of miscarriage, etc.
Why should I take the Down’s syndrome screening?
Because every pregnant woman has the possibility of conceiving a Baby with Down syndrome. Down syndrome screening in early pregnancy has the highest detection rate (85%) of the screening methods available, and the detection rate in mid pregnancy is 70%. These two methods have no effect on the fetus, and the test is performed early in the gestational cycle, so that if you are at high risk, you have more time to consider further treatment and can detect a baby with Down’s syndrome as early as possible, with a relatively low risk of termination of pregnancy and less harm to the mother.
What do the “high risk” and “low risk” screening results mean?
A “high risk” screening result only indicates that your fetus has a high chance of developing Down’s syndrome, but it does not mean that the fetus is abnormal. If your screening result is “low risk”, it means that your fetus has a low chance of having trisomy 21 or trisomy 18.
What should I do if I am at high risk?
If you have a high risk screening result, please do not worry as most high risk babies are still normal, please come to the Genetic Counseling Clinic and we will arrange for a confirmatory test as soon as possible. Because screening for Down’s syndrome only calculates the chance of your baby having Down’s syndrome, further chorionic villus puncture, amniotic fluid test or cord blood test is required to confirm whether your baby has Down’s syndrome.