Down syndrome, or 2 1 trisomy, also known as congenital stupidity in China, is one of the most common serious birth defects. The clinical manifestations are: the patient's face is special, his eyes are upturned, his nose is flat, his tongue often sticks out, and he has muscle weakness and penetrating hands. The vast majority of patients are severely mentally retarded and accompanied by various organ abnormalities, such as congenital heart disease, leukemia and digestive tract malformation. The occurrence of this disease has spread to almost all parts of the world, and there are few ethnic differences. According to statistics, the incidence of chromosomal abnormalities in newborns is 5-6/ 1000, and Down's syndrome is about 1/750. Most patients occur randomly, but the incidence increases with the increase of mother's age. Generally, the birth rate of this child can be as high as 1/350 when the mother is over 35 years old.

In the past, the prenatal diagnosis of this kind of disease was only through amniotic fluid or chorionic villus examination, but these methods were limited to some high-risk pregnant women because of their long time, high cost and troublesome operation. According to statistics, about 80% of fetal chromosomal diseases occur in ordinary pregnant women, because the absolute fertility value of this group exceeds that of high-risk groups, so prenatal diagnosis from the perspective of eugenics can not be ignored. The actual situation is that the prenatal diagnosis department of this group has been unable to bear it so far, which eventually makes this group a blind spot for eugenics. 1988 The emergence of serum marker screening method fundamentally changed the passive situation of prenatal prevention of the above diseases.

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Down syndrome is a kind of mental retardation disease with characteristic appearance, which is prone to specific medical problems and needs intermittent help. Down syndrome patients can usually be diagnosed at birth, and early intervention is better for such children; Although there are still many aspects to do and learn, the education department and the medical and health department should provide more and better knowledge and love for this special group of children. "