Reason:
1. At present, before marriage in China, people can have an examination, and the relevant laws have scientific provisions on marriage. Our country has strict regulations on the types of certain diseases, so we should know before marriage.
2. Because Down's syndrome is also called congenital stupidity, it is a genetic disease, and the state stipulates that people with genetic diseases cannot get married.
Specific analysis:
1, Down syndrome, also known as 2 1 trisomy, means that patients have one more chromosome 2 1 than normal people (normal people are a pair). Down's screening is a risk value calculated by the content of AFP and HCG in pregnant women's serum, combined with the age, weight and gestational age of pregnant women. The critical value is 1/275. Greater than is high risk, less than is low risk. The probability of down syndrome (DS) in ordinary people (under 37 years old) is 1/750.
2. If the screening result is high-risk, amniocentesis is recommended, but even if it is high-risk, it is not necessarily children with Down's syndrome, but for the sake of insurance, DS screening is still recommended. Children with Down syndrome have severe mental retardation, unable to take care of themselves, and complicated cardiovascular diseases. They need the long-term care of their families, which will cause great mental and economic burden to their families.
Suggestion:
Prenatal diagnosis is an effective measure to prevent the birth of children with Down syndrome. The determination of serum markers HCG and AFP in prenatal screening has certain clinical significance, because it can reduce the blindness of prenatal diagnosis of amniocentesis, prompt the existence of high-risk pregnant women, enable these pregnant women to do further prenatal examination and consultation, and prevent the birth of children with Down syndrome to the greatest extent.
The clinical manifestations of children with Down syndrome are 1, and children have obvious special facial signs:
For example, the eye distance is wide, the nasal root is low and flat, the eye fissure is small, the lateral side of the eye is oblique, there is epicanthus, the external ear is small, the tongue is fat, it often sticks out of the mouth and drools a lot. 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. Palmprint and sandal foot are common, and about half of children with toe ball are arched dermatoglyphics.
2. Sleepiness and eating difficulties:
It often presents drowsiness and difficulty in eating, and mental retardation becomes more and more obvious with age. IQ 25 ~ 50, delayed motor development and sexual development.
3, fertility disorders:
Male Down's babies will not be fertile until adolescence. A female Down's baby will have menstruation when she grows up and may give birth to a child.
4. Serious complications:
Children are often accompanied by congenital heart disease and other malformations. Because of its low immune function, it is prone to various infections, and the incidence of leukemia is 10 ~ 30 times higher than that of the general population. If you live to adulthood, you will often have symptoms of Alzheimer's disease after 30 years old.
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.
Specific steps:
1, Tang screening is mainly for screening, that is, to check whether the baby is a Down's child with congenital stupidity, mainly to check alpha-fetoprotein, human chorionic gonadotropin and free estriol.
2. It is not the patent of older pregnant women that the fetus has Down syndrome. Although pregnant women over 35 are closely related to Down syndrome, the older they are, the greater the chance of giving birth to a child with Down syndrome.
3. However, young women may also give birth to children with Down syndrome. Only 20% of Down syndrome occurs in elderly pregnant women, and the other 80% of Down syndrome fetuses are born in young pregnant women younger than 35 years old.
4. 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 unnecessary to have amniocentesis or chorionic villus examination for all women.
At present, the best way to prevent Down syndrome is:
All young pregnant women have screening tests in the early Tang Dynasty, among which high-risk pregnant women will have amniocentesis or chorionic villus examination, and whether the fetal chromosome is normal or not will be determined by amniocentesis or chorionic villus examination.
There is no effective treatment for how to avoid giving birth to Down syndrome. The best preventive measure is to terminate the pregnancy before the pregnant mother gives birth. In the early pregnancy, facial examination of fetal villi or amniotic fluid cells, assisted by ultrasonic scanner to look at the head, hands and feet of the fetus, can determine whether the fetus has Down syndrome, so that parents can decide whether abortion is needed.
1, genetic counseling
The older the pregnant woman, the higher the risk rate. The recurrence risk rate of standard Down syndrome is 65438 0%. Parents of children with translocation should carry out karyotype analysis in order to find balanced translocation carriers: if the mother is D/G translocation, the risk rate of each fetus is10%; If the father is D/G translocation, the risk rate is 4%. Most cases of G/G translocation are sporadic, and their parents' karyotypes are normal, but 2 1/2 1 translocation carriers are also found, and their next generation 100% suffers from this disease.
In the early pregnancy, facial examination of fetal villi or amniotic fluid cells, assisted by ultrasonic scanner to look at the head, hands and feet of the fetus, can determine whether the fetus has Down syndrome, so that parents can decide whether abortion is needed.
The prevention method is to do prenatal screening and prenatal diagnosis when necessary, and then terminate the pregnancy to prevent such children from being born.
2. Prenatal diagnosis
Birth examination is an effective measure to prevent the birth of children with Down syndrome. Couples who have a history of bearing this disease should make prenatal diagnosis, that is, chromosome karyotype analysis. Sampling includes amniocentesis of amniotic fluid cells in the second trimester, chorionic villi cells in the second trimester and umbilical cord blood lymphocytes in the second trimester.
The determination of serum markers HCG and AFP in prenatal screening has certain clinical significance, because it can reduce the blindness of prenatal diagnosis of amniocentesis, prompt the existence of high-risk pregnant women, enable these pregnant women to do further prenatal examination and consultation, and prevent the birth of children with Down syndrome to the greatest extent.