What disease is Down syndrome?

What disease is Down syndrome? It is a congenital disease, also known as 2 1- trisomy syndrome, mainly because chromosome 2 1 changes from normal 2 to 3, which leads to various symptoms, developmental retardation and various problems.

What is Down Syndrome? Down syndrome is 2 1- trisomy syndrome, also known as congenital stupidity or Down syndrome. Congenital stupidity? Or? 2 1 trisomy syndrome? In particular, chromosome 2 1 changed from normal 2 to 3, which is a disease caused by polygene aberration of congenital chromosome abnormality and one of the diseases with the highest birth defect rate in China. 60% of the children miscarried in the early fetus, and most of them survived with severe mental retardation, accompanied by other problems, such as congenital heart disease, leukemia, digestive tract malformation and so on. They can't take care of themselves, and their life expectancy is short. The average survival age is only 20-30 years old, and their IQ is generally between 20-50. The symptoms of Down syndrome are mainly reflected in:

1, the child has obvious special facial signs, such as wide eye distance, low nasal root, small eye fissure, oblique eyes, epicanthus, small external ear, fat tongue, frequent spitting and drooling. Short stature, smaller head circumference than normal people, short head back and forth diameter, flat head pillow. The neck is short and the skin is slack. Bone age often lags behind age, delayed teething and frequent dislocation. Hair is soft and less. The anterior fontanel closed late, and there may be a third fontanel in the occipital midline. The limbs are short, the joints can be excessively bent due to ligament relaxation, the fingers are thick and short, and the middle phalanx of the little finger is underdeveloped, which makes the little finger bend inward, the phalanx is short, and the trigeminal point of the palm shifts to the distal end. Palm prints and sandal feet are common, and about half of children with big toes are arched dermatoglyphics.

2. It is often manifested as drowsiness and difficulty in eating, and its mental retardation is gradually obvious with the increase of age. IQ 25 ~ 50, delayed motor development and sexual development.

3. Male Down's baby will not have fertility until adolescence. A female Down's baby will have menstruation when she grows up and may give birth to a child.

Down syndrome screening How to check Down syndrome screening is the abbreviation of Down syndrome prenatal screening. The purpose is to determine the risk of Down syndrome in the fetus by detecting the blood of pregnant women.

Tang screening is mainly used for screening, that is, to check whether the baby will be a down's child with congenital stupidity, mainly to check alpha-fetoprotein, human chorionic gonadotropin and free estriol.

Fetus with Down syndrome is not a patent for older pregnant women, although older pregnant women over 35 are closely related to Down syndrome. The older you get, the greater the chance of giving birth to a child with Down syndrome. But young women may also give birth to children with Down syndrome, and only 20% of Down syndrome occurs in elderly pregnant women, and 80% of Down syndrome fetuses are born in young pregnant women younger than 35 years old. Therefore, if only the elderly pregnant women are examined, Down syndrome cannot be well prevented.

On the other hand, if all pregnant women receive amniocentesis or chorionic villus examination, it will not only cost more, but also increase the probability of miscarriage, so it is not necessary to have amniocentesis or chorionic villus examination for all women.

At present, the best way to prevent Down's syndrome is to carry out Tang screening test for all young pregnant women, and to carry out amniocentesis or chorionic examination for those who show high risk to determine whether the fetal chromosome is normal or not.

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