Baby Down believes that everyone is familiar with it. The clinical manifestations are special face, mental retardation, growth retardation, and often accompanied by cardiovascular system malformation and other congenital malformations.
At present, there is no effective treatment.
The only effective way is to avoid the birth of defective children.
Why was Tang Bao born?
Down syndrome (2 1- trisomy syndrome), also known as congenital stupidity or Down syndrome, is the most common chromosomal disease in human beings. The cause of the disease is an extra chromosome 2 1, so it is named 2 1 trisomy syndrome.
Then why does this chromosome mutate?
At present, the etiology is not clear, but we know that there are many pathogenic factors, including parental behavior, heredity, environmental teratogenesis and other factors, which lead to chromosome 2 1 abnormality. Usually, the age of parents is also one of the factors that affect the fetus to become a child with Down syndrome. The older you get, the more likely it is to happen.
incidence rate
The incidence of Down syndrome in newborns is about 1/800, with more boys than girls.
20-year-old female, the risk of giving birth to Down's baby is11530; At the age of 30, the risk increases to1/901; At the age of 35, the risk increased to1/385; At the age of 40, Gundam1110. Therefore, the reproductive age of women is positively correlated with the incidence of Down syndrome.
Although the incidence of Down syndrome is closely related to the mother's age, data show that most Down's babies are not born to elderly women. Because older women pay more attention to prenatal screening and prenatal diagnosis, the birth rate of children with Down syndrome has decreased. However, many young pregnant women are lucky enough not to pay attention to the screening of Down's syndrome and finally give birth to children.
Winged angel
There are a group of such children in the world. They have crescent eyes and similar smiles. They are mentally retarded and have language development disorders. The child began to learn to speak late, and his speech was slurred. Most Tang babies are gentle, often giggle and can perform simple actions. A few patients are irritable, even have destructive and aggressive behavior, accompanied by nervous posture.
In a period of time after birth, there may be little difference in motor function between children and normal children of the same age, but this difference increases with age. Most patients with congenital stupidity can't take care of themselves, live independently, need long-term care and can't integrate into society.
They are in pain themselves: they are more likely to get sick than others.
Down syndrome patients are also more likely to be accompanied by abnormal organ variation, as follows:
Digestive organ abnormalities: such as congenital esophageal atresia, duodenal stenosis, anal atresia, etc.
Congenital heart disease: the incidence rate is as high as 40%, especially endocardial insufficiency, which is usually fatal if not treated early;
Eye abnormalities: myopia, hyperopia and confusion caused by abnormal cornea and lens;
Leaching otitis media: the inner ear is easy to accumulate fluid and cause otitis media, which affects hearing.
The probability of leukemia in children with Down syndrome is high, about1150, and that in ordinary children is about 1/2800.
How to avoid the birth of Tang Baobao
Screening method in pregnancy-combined screening in early pregnancy
Pregnant women undergo prenatal serological screening at 9- 13+6 weeks of pregnancy, also known as down's screening. Generally, pregnant women's venous blood is taken to detect pregnancy-associated protein A and free hCGβ subunit (free -βhC). Ultrasound examination was performed at gestational age 1 1- 13+6 weeks, and the width of the posterior zona pellucida (NT) of the fetal neck was measured to determine whether the fetal nasal bone (NB) was visible. Combined with the basic information of pregnant women, risk assessment, routine prenatal examination with low risk and prenatal diagnosis with high risk were carried out. Combined screening in early pregnancy requires high technology for NT, and it is impossible to screen open neural tube defects in early pregnancy.
Screening method during pregnancy-second trimester screening
Serological triple screening in the second trimester is a universal screening scheme in China. Venous blood of pregnant women was taken from 0/5 to 20+6 weeks of pregnancy, and AFP, free -βhCG subunit and free estriol (uE3) were detected. Some units are quadruple method, and inhibin A is added. These indicators are combined with early pregnancy results to assess the risk of fetal diseases.
Open neural tube malformation can be found by screening in the second trimester.
Non-invasive DNA as a screening method during pregnancy
Non-invasive DNA prenatal testing technology, pregnant women in pregnancy 12 weeks 2 1 week is the best time to check. The risk values of 2 1 trisomy, 18 trisomy and1trisomy were obtained by taking 5ml of maternal peripheral blood, sequencing the genes in the laboratory and analyzing the biological information.
Note: Non-invasive DNA technology is a screening technology and cannot be used as a diagnostic tool. However, this is only a risk value, just like Tang Ping. It uses statistical algorithm to identify whether the number of fetal chromosomes is abnormal. It is only a prenatal screening method, and can not replace the final interventional prenatal diagnosis chromosome karyotype analysis.
Diagnostic method during pregnancy-amniocentesis
High-risk pregnant women are generally screened, and doctors will advise them to do amniocentesis to confirm the diagnosis. When the fetus lives in amniotic fluid, a large number of epidermal cells will fall off in amniotic fluid, and the cells that fall off from the fetus contain fetal genetic material. These cells were obtained by amniocentesis, and then the chromosomes were analyzed. If a family member has a definite hereditary disease, we can judge whether there is a hereditary disease by analyzing the gene fragment of the disease.
The result of amniocentesis is the most authoritative and final "gold standard" to judge whether the fetus has Down syndrome.
Prevention and control of birth defects during pregnancy
March 2 1 day is "World Down Syndrome Day" every year. This was first initiated by the United Nations on 20 1 1 to raise public awareness of Down's syndrome, help patients with Down's syndrome and prevent the occurrence of Down's syndrome. The birth of Down's son has brought different degrees of economic burden and mental stress to children, families and society, resulting in a decline in per capita social happiness.
We hope that every family should do well and pay attention to pre-pregnancy health care and prenatal examination, and don't take chances, which is of great practical significance for finding and terminating the birth of Down's baby in time.