My wife s prenatal screening 21 is at high risk of trisomy, what should I do?

1.Down's is a screening test, not 100 accurate, and the gestational age needs to be strictly examined and judged, and the difference in the size of the gestational week directly affects the calculation results of Down's, so you first see whether your gestational week is accurate, which can be judged by B-ultrasound examination.

At that time, the hospital made my pregnancy 15 days wrong, so in order to reassure myself, I did it a second time, and the result was 8 times worse.

The second time I did it in a woman and baby, the expert there told me that there was no need to do a second time, and that screening tests were not the basis for judgment in the first place.

2.Regarding the diagnosis of Down's syndrome, if the diagnosis is confirmed, you need to do an amniocentesis, and by taking your amniotic fluid, you will do a chromosome culture to see if there is a problem with chromosome 21. But amniocentesis has a risk of 1, and I've seen it on the Internet, there are chromosome culture failures.

Even the puncture is done in vain.

Amniocentesis takes up to a month to get results.

3.At 24 weeks of pregnancy, the fetus can be observed from the face through four-dimensional color ultrasound to see if there are characteristics of a Down baby. It seems that there may be a latent presence in Down's syndrome, and it will only manifest itself at a certain age. It can only be said to be an observation method, and it cannot be diagnosed.

I recommend that you first confirm that the gestational week is accurate, and if there is a mistake, recalculate it to see what the risk is. But after all, it is a screening test, and it is not very meaningful, so don't worry too much.

The accuracy rate of Tang Sieve is only 60%-70%.

In high-risk cases, it is best to re-determine whether the gestational age matches the actual gestational age, and then consider another blood test, but because screening for Down syndrome is time-limited, amniocentesis is the best option. Now the sheep wear the technique is very good, and it is not so dangerous.

What to do if Down's screening for trisomy 21 is at high riskOkay? The most worrying thing for pregnant women who do Down syndrome screening is the occurrence of high-risk phenomena, but in fact, the high risk of Down syndrome does not mean that the fetus will definitely have malformations, and further amniocentesis is required, and only after confirmation of amniocentesis can it be diagnosed.

Trisomy 21 is a congenital fetal chromosomal malformation, which mainly affects the child's intelligence and will increase the burden on the family and society after birth, so if it can be diagnosed, it is best not to. Now that screening is high-risk, it is better to do amniocentesis to confirm the diagnosis to avoid a heavy burden in the future. The consequence of the high risk of Down syndrome is fetal congenital intellectual disability, which is directly related to heredity and pregnancy protection, as long as there is no such problem in the family, the fetus has no problem with normal development, and the risk degree varies according to the age and constitution of the pregnant woman, the probability of occurrence is very low, do not worry.

Screening is an evaluation and is not yet a diagnosis, but amniocentesis is necessary for high-risk conditions. If it is a congenital chromosomal malformation, there is currently no way to intervene and **, only to terminate the pregnancy.

Down's screening is a kind of general survey for all pregnant women in China to prevent the birth of congenitally mentally retarded children. "Down syndrome" means what we often call "Down syndrome", "congenital stupidity" is also called "trisomy 21", it is a chromosomal disease, normal people have only one pair of chromosome 21 (two), and the chromosome 21 of trisomy 21 has become three, resulting in severe multiple congenital malformations (special face, congenital heart disease, abnormal function of large organs and limbs), accompanied by severe mental retardation, basic inability to take care of themselves, most of the children die before they are minors. Therefore, prenatal screening and diagnosis are very important.

In fact, screening for Down's syndrome is an economical and non-invasive examination, that is, B-ultrasound and second-trimester serological screening, and pregnant mothers should not worry too much about the economic pressure brought by the examination. According to statistical calculations, the screening results are classified as high or low risk. When the risk value is greater than 1 380 (the risk value of some test methods is greater than 1 280), the risk rate is set at 1 380 because the average risk rate of 35-year-old pregnant women who are over 35 years old is about 1 380.

If it is higher than this value, it is considered high-risk, and vice versa. Only when the screening indicates that the fetus is at high risk is further prenatal diagnosis, i.e., "amniocentesis", which analyzes the fetus's chromosomes and finally makes a diagnosis of abnormality. Amniocentesis is also a safe diagnostic method that does not require stress.

However, the choice is generally voluntary, and the decision rests with the pregnant woman herself.

You must know that under normal circumstances, people have 46 pairs of chromosomes and 23 pairs of chromosomes, and trisomy is the 21st, 18th, and 13th pairs of chromosomes of the fetus that are 1 more than the normal two, which is called trisomy xx. Trisomy 21 is Down syndrome.

Pregnant women of any age may be pregnant with fetuses with chromosomal abnormalities, but the incidence of chromosomal abnormalities increases significantly with the age of pregnant women, such as the incidence of chromosomal abnormalities in pregnant women under 25 years old is 1:1185, and as high as 1:335 at the age of 25, so elderly pregnant women over 25 years old need to do chromosomal examination.

Also, be clear about these.

1. Down's screening is a possibility test: the high-risk group only says that the fetus is more likely to be a Down's child, and the low-risk group may also be a Down's child.

2. About 1 10 of all pregnant women are screened as high-risk groups, and 1 2 100 of the high-risk groups are Down's children, that is, 1 2 1000 pregnant women are Down's children.

3. When the blood test screening value is greater than 1 270, it is a high-risk group, and the normal value is about 1 700. The international standard is 1,270

4. The Down's screening value is a correction value. The main factors affecting the screening value of Down syndrome are: maternal age, gestational age, fetal thyroid protein secreted by the fetus, human chorionic hormone secreted by the placenta, drug factors, genetic factors, etc.

Eating "Dolly Mom" during fetal protection may affect the Down's screening value if the human chorionone exceeds the normal value.

Therefore, according to your results, it is a high risk, and it should be necessary to do a progress test, that is, Down screening.

Every fetus is at risk of developing Down syndrome, regardless of whether the parent has the disease. Therefore, it is necessary for every pregnant woman to do Tang screening test.

In general, advanced maternal age (> 35 years old) increases the risk of fetal disease. You're only 28 years old, so age risk is lower.

The risk value of Tang screening is based on factors such as maternal age, gestational age, and blood biochemical indicators (AFP, free HCG). Combining all the factors, through a special calculation method, the risk value of a fetal disease is obtained, and yours is 1:250.

The risk cut-off value is used as a reference standard, greater than it is high risk, and less than it is low risk. Your risk value is already greater than the cut-off value, so it is high risk.

For high-risk pregnant women, there is no need to worry too much. This is because it only means that the risk of fetal disease is relatively high, and it does not mean that it will definitely be diseased. To be conclusive, a further diagnosis of amniocentesis is required. However, amniocentesis carries a risk of miscarriage and should be considered carefully.

The non-invasive prenatal genetic testing that is now being implemented can also assess the risk of Down syndrome in the fetus, with an accuracy rate of up to 99%, and there is no risk of miscarriage. If you are concerned about the risk of sheep wearing, you can consider doing non-invasive prenatal genetic testing first.

I was also diagnosed with a high risk of trisomy 21 before, the risk value is 1 170, I don't believe it, because I am only 25 years old, in good health, and later found out that they wrote my pregnancy week wrong, I massaged the last menstrual period, it was 18 weeks, according to the B ultrasound display is 15 weeks, the obstetrician and gynecologist said that it should be calculated according to the B ultrasound display, the result is 15 weeks, and the risk value becomes 1 1000, you see if they have miscalculated for you, or just change the hospital to do it again to see.

It is more reassuring to do amniocentesis to check and confirm. Stay in a good mood.

Your test result trisomy 21 is high risk, indicating that your baby is at high risk of developing trisomy 21.

The accuracy rate of Tang screening is about 70%, which is used as a screening method, but cannot be diagnosed. In other words, even if he now says that the fetus is at high risk, he is not 100% sure that your baby will have the disease; Conversely, even if the risk is low, it cannot be said that it is 100% disease-free.

To determine if your baby is sick, it is recommended that you have further diagnostic tests.

At present, there are two kinds: 1. Traditional amniocentesis: the accuracy rate is more than 99%, and there is a risk of miscarriage.

2. Non-invasive prenatal genetic testing: the accuracy rate is more than 99%, only the blood on the arm is drawn, which is very safe, but it can only be done in some large hospitals in Beijing, Wuhan, Chongqing, Shenzhen, Guangzhou, Shanghai, and Hunan.

If your baby is indeed sick, then whether it is tested or not, the fetus is sick, and it cannot be **, so you can only choose to induce labor or give birth to a sick baby; If the baby is not sick, then choosing different further testing methods will have different effects on the fetus (amniocentesis may cause miscarriage), it is recommended that you choose a safe and reliable testing method.

In addition, trisomy 21, also known as Down syndrome, has nothing to do with whether the parents or family have the disease, and it is a disease that can affect any fetus.

Summary. Hello is necessary.

But you can try non-invasive DNA first, and if it is still high-risk, then do sheep wear. Because there is a risk of miscarriage when making sheep wear. Nowadays, many people are at high risk, and this has a lot to do with the individual's hormone level.

Non-invasive DNA may be close to 2000, but it's a little safer.

The daughter-in-law has a risk value of 1:263 for trisomy 21 screening for down's syndrome, which is high risk, and the doctor asked her to do amniocentesis, is it necessary?

Hello Yes, it is necessary, but you can try non-invasive DNA first, and if it is still high-risk, then do sheep wear. Because there is a risk of miscarriage when making sheep wear. Nowadays, many people are at high risk, and this has a lot to do with the individual's hormone level.

Non-invasive DNA may be close to 2000, but it's a little safer.

Hope it helps.

However, you should note that although the accuracy of non-invasive DNA is higher than that of Down's screening, non-invasive DNA is still a screening test in nature. The accuracy of non-invasive DNA detection for trisomy 21 syndrome and trisomy 18 is 95%, although it is close to 100%, but it still cannot give a definitive result like amniocentesis. Therefore, Tang screening is high-risk, and amniocentesis is required.

However, although the accuracy of non-invasive DNA is higher than that of Down's screening, non-invasive DNA is still a screening test in nature. The accuracy of non-invasive DNA detection for trisomy 21 syndrome and trisomy 18 is 95%, although it is close to 100%, but it still cannot give a definitive result like amniocentesis.

This means that the baby is at a higher risk of developing trisomy 21.

Trisomy 21 is a disorder with an abnormal number of chromosomes, in which normal people have two chromosomes 21 and trisomy 21 has three. Patients will experience symptoms such as mental retardation and developmental abnormalities.

The accuracy of Tang screening is not high, and false positives are often detected. Most of the high-risk ones are actually false detections.

Specifically, trisomy 21, also known as congenital stupidity or Down syndrome, is the most common birth defect caused by autosomal aberrations in children. As the name suggests, the disease is an intellectual disability with a specific phenotype caused by congenital factors. The main clinical features of the child are intellectual disability, physical retardation, and special facial features, which may be accompanied by multiple malformations.