What is Down syndrome? What is Down syndrome?

Down syndrome, also known as trisomy 21, is a condition caused by a chromosomal abnormality. 60% of the children were aborted in the early stage of the fetus, and the survivors had obvious mental retardation, special facial features, growth and development disorders, and multiple malformations. Zhou Li:

Down syndrome is actually a type of congenital stupidity, so we often see some congenital stupid children on this road, saying that such children all look the same? The eyes, the bridge of the nose are flat at first, the eye distance is slightly wider, and the ears are lower down. So why do these children all look the same?

That's because there's something wrong with their chromosomes, which means that each of us has 46 chromosomes, right? So he has an extra one on chromosome 21, what are we called? 21 three-body, that is to say, Down's is another name for 21 three-body.

It's that he has one more chromosome.

Down syndrome is mainly caused by chromosomal defects, which are essentially a chromosomal defective condition, also known as "congenital stupidity". The reason why it is called sosomy 21-3 syndrome is mainly because the patient's chromosome 21, which was originally 2, has now become 3, resulting in genetic aberrations, which in turn have a certain impact on the patient's intelligence. Current medical studies have found that the cause of Down syndrome is mainly related to the decrease in egg viability caused by the advanced age of pregnant mothers, and the impact on fathers is very limited.

Because Down patients are infertile, they are almost not genetically influenced by their father.

What is Down syndrome, Wenzhou Baijia Oriental Obstetrics and Gynecology Hospital will introduce you to what is Down syndrome.

Down syndrome is a chromosomal abnormality, and babies with Down syndrome are also known as trisomy 21, or down syndrome, because there is an extra chromosome 21 in the chromosome. Down syndrome is a chromosomal abnormality, and Down syndrome is also known as trisomy 21, or down syndrome, because there is an extra chromosome 21 in the chromosome. The clinical manifestations of children with Down syndrome are mainly mental retardation, and their appearance has some characteristics, such as small eye clefts, epicanthal folds, and clinical manifestations such as low ears, obesity, tongue protrusion, and mouth opening.

Many children with Down syndrome have organ malformations, such as abnormal obstruction of the digestive tract or malformations of the heart. Some babies with Down syndrome will develop leukemia after birth, so Down syndrome is one of the key diseases to be screened for during pregnancy.

Down syndrome is caused by chromosomal abnormalities, and there will be mental retardation, developmental delay, and special facial features, such as widened eye distance, tongue often sticking out of the mouth and low immunity, and some children will also have congenital heart disease. If the fetus is found to have Down syndrome in the first trimester, the pregnancy should be terminated immediately, and it is not recommended to continue the pregnancy, if the child has low immunity after birth and is prone to infection, the infection should be prevented in time, and surgery can be considered if there are malformations in the heart, intestines and other organs**. At present, you can do Down's screening for free about 4 months pregnant, and it is recommended to check it in time.

Down syndrome is a common genetic disease, generally children will develop from birth, children do not have the ability to live and grow independently, but it is also not possible, so it means that many pregnant women will do some Down's examination and other examinations before giving birth to check whether the baby has the possibility of disease. So, what exactly is Down syndrome?

1. What is Down syndrome?

Down syndrome, also known as trisomy 21, is a condition caused by a chromosomal abnormality (an extra copy of chromosome 21). Most of the affected children will be aborted in the early stage of the fetus, and the survivors have obvious mental retardation, special facial features, growth and development disorders, and multiple malformations.

2. Diagnosis of Down syndrome

(1) Down's screening

We can use Down syndrome screening during pregnancy to determine the risk value of Down syndrome. Down's screening is a detection method that measures the concentration of alpha-fetal protein, chorionic gonadotropin and free estriol in maternal serum by sampling the serum of pregnant women, and combines the expected date of delivery, weight, age and gestational age of the pregnant woman at the time of blood collection to calculate the risk factor of giving birth to a fetus with birth defects.

(2) Amniocentesis

For high-risk pregnant women with Down syndrome, doctors usually or recommend further tests, amniocentesis, or noninvasive DNA tests. Noninvasive DNA testing does not involve the uterus, but it is not as accurate as amniocentesis. Amniocentesis can confirm whether the fetus has Down syndrome, but because it is an invasive test, it has a 5 per 1,000 miscarriage rate.

3. Prevention of Down syndrome

At present, there is no effective prevention method for Down syndrome, and the best way is for pregnant mothers to do a good screening for Down syndrome, and terminate the pregnancy before giving birth after medical confirmation.

4. Manifestations of Down syndrome

Down syndrome is characterized by mental retardation, developmental delay, special facial features, and often other malformations such as congenital heart disease. Specifically, the skull is relatively small and very round, the facial eye distance is wide, the eye fissure is small, the outer corner of the eye is slanted, the tongue often sticks out of the mouth, there is more salivation, short stature, bone age lag, and there are also backward motor functions such as clumsiness, uncoordination, and unstable gait. The male Tang Bao is infertile, and the female Tang Bao may be fertile, but there is a certain hereditary nature.

5. Pay attention to the baby's autumn health

1.Stick to taking your baby outdoors.

The baby spends no less than 2 hours outdoors every day, and receiving sunlight will enhance the baby's resistance.

2.The room should be ventilated frequently, and the bedding should be dried frequently.

Keeping indoor air fresh is good for your baby's health. On a sunny day, drying the baby's bedding can not only play a role in disinfection and odor, but also make the baby more comfortable.

3.In early autumn, it is advisable to scrub with cold water to improve the baby's ability to adapt to cold air.

Cold scrubbing includes washing your hands with cold water, washing your face, wiping your body, etc. Cold water exercise should be gradual, first use water close to body temperature, and then gradually reduce the temperature of the water, so that the baby can adapt to the principle. Pay attention to dry the baby's body with a dry towel after scrubbing, and gently wipe it until it is slightly red.

Down syndrome, also known as trisomy 21, is a condition caused by a chromosomal abnormality (an extra chromosome 21). 60% of the children were aborted in the early stage of the fetus, and the survivors had obvious mental retardation, special facial features, growth and development disorders, and multiple malformations.

In 1866, the first complete description of the typical signs of Down syndrome, including the fact that children with similar facial features, was published, hence the name Down syndrome.

Modern medicine has confirmed that the incidence of Down syndrome is related to the mother's age of pregnancy, which is an abnormality of chromosome 21, and there are three types: trisomy, translocation and mosaicism. Advanced maternal age and egg aging are important reasons for non-separation.