Down syndrome is the most common chromosome disease in human beings, and it is also the first confirmed chromosome disease in human beings. It is caused by the addition of a chromosome 2 1 in the gamete (germ cell) formation stage or zygote stage (about 24 hours after fertilization). Regardless of country, race and gender, patients have similar facial features and have a particularly stupid face; Mental retardation and growth retardation are the most prominent and serious manifestations of Down syndrome.
Chromosome abnormality is called "syndrome" because it involves multiple genes and its clinical manifestations are multi-organ and multi-system abnormalities.
Birth incidence: 1/700 ~ 1/900. It is equivalent to having a Down's son born every 20 minutes.
Incidence: Down syndrome accounts for about 95% of all chromosomal diseases in newborns. Down syndrome is random, with no warning in advance and no obvious family history. Even a healthy couple may give birth to Down syndrome. And pregnant women of all ages have the probability of giving birth to Down's children. Statistics show that 20% of Down's children are born to pregnant women under the age of 35. 80% of Down's children are born to pregnant women over 35 years old.
Genetic probability: The genetic probability of Down's children is 1%, of which 88% comes from the mother and only 3% comes from the father.
DS series colloidal gold immunochromatographic serum reagent guidance card developed and produced by Zhongke Hengye is a professional quantitative detection of blood markers of pregnant women, or it can be used to calculate whether pregnant women are DS high-risk detection reagents by using the software of Zhongke Hengye prenatal screening detection system. This reagent is economical, simple and harmless to the fetus, and has been widely used as a routine examination item for pregnant women in developed countries such as Europe and America. Pregnant women can take 2ml of venous blood from the relevant testing center for testing at the gestational age 14- 19.
"Children with Down syndrome" is caused by the abnormal number of chromosomes carrying genetic genes, which is accidental and random. Every healthy couple can't rule out this potential danger, and it happens without warning, no family history, and no clear toxic contact history. "Down's son" may have neonatal asphyxia or death during childbirth; In infancy, people who don't drink milk are prone to respiratory infections and die of high fever. Even if they survive, they are usually born with mental retardation, often accompanied by congenital heart disease, microcephaly, cleft palate, anus and other congenital malformations. At present, there is no effective treatment for this disease.
Down syndrome is one of the most common autosomal trisomies leading to congenital dementia. It is caused by one more chromosome 2 1 than normal people, so it is also called "2 1 trisomy syndrome". "Down's son" is usually a congenital moderate mental retardation. It is characterized by severe mental retardation, and the IQ is mostly 20~60, which is only 65,438+0/4 ~ 65,438+0/2 of normal people of the same age. It has unique facial and physical deformities, such as small head, flat pillow, thick neck, small eye fissure, oblique side, deep inner canthus, wide eye distance, saddle nose, half-open mouth, tongue out of mouth, short and thick fingers, running through palm print, and little finger flexion. 50% were complicated with congenital heart disease, digestive tract malformation and leukemia.