How to identify Down syndrome babies

Down disease, also known as Down syndrome, means that patients will have intellectual problems starting from August, and may even cause other complications, such as heart function diseases, intestinal function diseases, the patient's height development will become abnormal, and there will be problems with sexual function. In order to identify babies with Down syndrome, some relevant examinations are needed.

Down syndrome and Down disease. Down syndrome was formerly known as Mongolian syndrome. It is a congenital disease. The main problem of people with Down syndrome is intellectual disability. Down syndrome means there is one extra chromosome in the 21st pair, which means there are 47 chromosomes in the cell. It can be roughly divided into trichromatosis, translocation type, and embedded type. Trichromatosis accounts for about 95% of Down syndrome patients and is related to the increasing age of the mother, while translocation type accounts for about 4% of Down syndrome patients. Down syndrome is the most common chromosomal abnormality and one of the main causes of mental retardation, with an average incidence of one in every 800 newborns. Down syndrome generally has moderate to severe intellectual disabilities, and may also be combined with other diseases, such as: congenital heart disease, intestinal obstruction, etc.

In the past, the only way to diagnose this type of disease before birth was through amniocentesis or chorionic villus sampling. However, these methods are time-consuming, expensive, and difficult to operate, so they are limited to some high-risk pregnant women. According to statistics, about 80% of fetal chromosomal diseases occur in ordinary pregnant women. This is because the absolute fertility value of this group exceeds that of the high-risk group. Therefore, prenatal diagnosis for them cannot be ignored from the perspective of eugenics. The actual situation is that the prenatal diagnosis department is still unable to afford it for this group of people, which ultimately makes this group of people a blind spot for eugenics. The emergence of serum marker screening methods in 1988 fundamentally changed the passive situation in prenatal prevention of the above diseases.

Trisomy 21 syndrome includes a series of genetic diseases, the most representative of which is the trisomy of chromosome 21, which can lead to severe deformities including learning disabilities, intellectual disabilities and disability. The disease is named after John Langdon Down, a British physician who was the first to describe its pathology in the late 19th century.

In 1965, WHO officially named this disease "Down syndrome".