Necessary screening of Tang’s syndrome
There are topics: Who set up a family not running for happiness?Who doesn’t want to have a healthy, smart, cute baby?Friends may say: Aren’t you nonsense?We want to dream.
Although the incidence of children has gradually declined in recent years, no one wants to recruit.With the popularization of the knowledge of eugenics and preferences and the continuous understanding of Tang’s syndrome (21- trisomy syndrome), preventing Tang’s syndrome has become the top priority for each family to be a pregnant embryo;Check the high risk factors of Tang’s syndrome in advance to prevent the occurrence of Tang’s syndrome. Once you are pregnant, you can determine the probability of Tang’s child through conventional screening and evaluation and intervene as soon as possible.
Donnia syndrome: Scientists call it 21 trisomy syndrome, which is the earliest chromosomal abnormal disease that humans have been determined.Studies have found that the incidence of this disease among living babies is about 1: 100 000 to 1: 600; it is also the highest intellectual disorders caused by chromosomal distortion.
Its clinical feature is that after birth, special faces, congenital multiple deformities, slow growth and development, and backward intelligence.At present, Tang’s syndrome is still one of the highest incidence in my country.
No. 21 chromosome abnormal distortion
The reason why the three bodies 21 are because in the division of cells, chromosomal distortion of No.21 is a three signs, mainly because the reproductive cells of the father or mother in the pro -generation are divided by the division of the germ.There is an extra chromosome.This is the origin of the 21stodes of cytology.
In short, we only need to understand that during the embryo, the cell split chromosomes have genetic mutations, and there is an extra chromosomes caused by a chromosome.
1. Special face: there are obvious special faces at birth, such as dull expressions, small eyelids, wide eye distances, and oblique eyes on both eyes.The mouth stretching tongue, saliva (saliva), small and round head, large and large front door, large and closed; necks are short and wide, drowsiness and feeding difficulty.
Tang’s special face
2. Intelligent backwardness: This is the most serious prognosis of this disease. Most of the Tang family will have different degrees of intellectual development, and it will increase with age.The minimum of adolescence and continued until adulthood.The specific manifestation is that the increasing backwardness of cognition, language, behavior, and mental disorders.
Backward cognitive ability
3. S slowned growth and development: Tang’s average height and weight are generally lower than normal children. They have slow physical development and movement. Generally, they are relatively short;; The limbs and fingers are short and thick, the middle finger is short and width, and inwardly bent; muscle relaxation; most children have umbilical hernia.
The fingers are short and thick, passing the palm
4. Various malformations: 50 % of Tang family have congenital heart disease, digestive tract malformations, and abnormal reproductive systems.
5. Portrait characteristics: Tong Guan Palm is a typical feature of Tang’s syndrome.
In summary, Donaldiae has five typical characteristics, and its disability can be said to be the first of all genetic diseases; therefore, in order to remember this disease, the World Health Organization set[World Donald Syndrome Day] is of extremely profound significance.
NT examination and screening Tang family syndrome
"Donalding" is referred to as "Tang S screening" to evaluate the risk of the fetus suffering from Tang’s syndrome; it is a special significance method.
By testing the blood -related blood of pregnant women, the concentration of nail protein, velvetic gonad hormone and free estradiolin can be detected in the mother’s serum, and combined with the age, weight, and gestational weeks of pregnant women to determine the fetus suffering from congenital fool,The risk coefficient or probability of neural tube defects.
As a result, risk and scientific assessment of embryonic cells can be found in the early pregnancy and mid -term, and should be retained or terminated to achieve the purpose of eugenics and eugenics.
Remember: Every pregnant woman should remember the checking time of each stage, don’t miss it!
1. Early pregnancy screening method (11 weeks to 13 weeks of pregnancy): Ultrasonic NT (that is, the rear transparent belt of the fetal neck) check + early pregnancy period serotics indicators (serum tire protein, velvet gonad hormone and free femaleTips).The positive rate of Tang’s syndrome can increase to 85%, so the combined screening method during early pregnancy is a better screening plan.
2. Joint screening method during pregnancy (15 weeks of pregnancy to 20 weeks 6 days): The combined screening of serum AFP and β-HCG as a sign is legal;Sanlian combination scheme of logo;
Why do you have to screen in combination?Any single serum logo test does not make a clear diagnosis of Tang’s Erner 100 %, and the probability of false positive and false negative results in serum logo examinations. To this end, a joint screening method needs to reduce this error to reduce this error.Rate.
3. Early and middle pregnancy combination/sequential screening method: Pregnant women receive two screening during early pregnancy and middle pregnancy, which will jointly calculate the risk of Tang’s children, which will maximize the detection rate and reduce the positive positive rate of false.
Tang’s screening high risk: can be performed with velvet film biopsy, amniotic fluid puncture, or non -invasive DNA detection
If the screening result is a high -risk pregnant woman, it does not mean that the fetus must be Donal, it only shows that the risk of the fetus suffering from the risk of Tang’s syndrome is increased., Or non -invasive DNA examination and other methods, so as to use whether the fetal chromosome is really defective; then comprehensively judge the age of pregnant women.
In summary: After a large number of scientific research, any healthy couple have children who are born in Tang’s syndrome. Even if the couple do not carry any explicit or hidden genetic genes;Donalding during the stages of pregnancy is a must -have for each pregnant woman during pregnancy.