What is Down syndrome

Down syndrome, or trisomy 21, also known as congenital stupidity or Down syndrome, is a disorder caused by a chromosomal abnormality (an extra 21st chromosome). 60% of children are aborted early in life, and those who survive have significant mental retardation, a peculiar facial appearance, impaired growth, and multiple malformations.

In 1866, Dr. John Langdon Down published the first complete description of the typical signs of Down syndrome, including the similar facial features of these children, and the syndrome was named Down syndrome after him.

Expanded Information:

Preventive Strategies

1, Genetic Counseling

The older the pregnant woman, the higher the risk rate. The risk of recurrence for standard Down syndrome is 1%. Both parents of a child with a translocation should be karyotyped to detect balanced translocation carriers: if the mother has a D/G translocation, there is a 10% risk rate for each child; if the father has a D/G translocation, the risk rate is 4%.

2. Prenatal diagnosis

Prenatal diagnosis is an effective measure to prevent the birth of children with Down syndrome. Couples with a history of Down's syndrome should undergo prenatal diagnosis when they have another child, i.e., chromosomal karyotyping, which includes mid-pregnancy amniocentesis for amniotic fluid cells, mid-pregnancy embryonic chorionic villus cells, and mid-pregnancy umbilical cord blood lymphocyte analysis.

Prenatal screening serum markers HCG, AFP determination has a certain clinical significance, because it can reduce the amniocentesis for prenatal diagnosis of blindness, suggesting the existence of high-risk groups of pregnant women, so that these pregnant women can be further prenatal examination and counseling, to maximize the prevention of the birth of children with Down's syndrome.

Baidu Encyclopedia - Pediatric Down Syndrome