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Welcome to the "Introduction to The Health Lecture Hall", I am the host Zhe Yu. Today, I have the honor to invite Liang Fengxiuliang, director of the Department of Maternal and Child Health Care of the Maternal and Child Family Planning Service Center of the Municipal Medical Group.
Liang Fengxiu
Chief Physician, engaged in obstetrics and gynecology health care and clinical work for 24 years. Graduated from Changzhi Medical College with a bachelor's degree in obstetrics and gynecology, he is a part-time professor of Fenyang College of Shanxi Medical University, good at the management of high-risk pregnant women and obstetric surgery at all levels, has rich clinical experience in the treatment of critically ill pregnant women, and provides more comprehensive gynecological and obstetric medical services for the majority of pregnant women.
ask
Today we are going to talk about the topic of Down screening, can you first talk to everyone about what is Down screening?
answer
Today I am very happy to come to the health lecture hall column, and I can talk about Tang Si with the majority of pregnant women and friends. Every family wants to have a healthy and smart baby, but a large number of unhealthy children are born around the world every year. Some of these children have structural deformities, while others have dysfunction. Our country is one of the highest-incidence families of birth defects. According to 2012 statistics, the birth defect rate in the mainland is 5.6 percent. This is a very large number, to reduce birth defects, the focus is on prevention, and the mainland currently implements tertiary prevention of birth defects.
Primary prevention is to carry out premarital examinations, through which some diseases affecting marriage and childbearing are diagnosed in advance. Through counselling and guidance, young people of childbearing age are given the most appropriate time to marry and have children; secondary prevention is carried out before childbirth, through pregnancy screening and prenatal diagnosis to identify fetuses with severe birth defects, and through intrauterine intervention or intrapartum surgery or early termination of pregnancy, etc., to reduce the birth of children with severe defects; tertiary prevention is to screen newborns after birth for congenital and genetic diseases, and some diseases can be treated early to reduce disability. Minimize the harm of birth defects. The Down screening we are going to talk about today is also called prenatal screening, which is a secondary prevention of birth defects. Down screening is short for Down syndrome prenatal screening.
Then I understand, Down's screening is to screen for Down syndrome, why screen for this disease?
Down screening is mainly for Down syndrome screening. In addition, two other conditions can be screened, one is Xanthodium 18 and the other is open neural tube malformations. Down syndrome is the most prevalent chromosomal disease in humans. Its incidence is between 600 and 800, and on the mainland, about 23,000 new children with Down syndrome occur each year, which means that on average, one child with Down syndrome is born every 20 minutes.
Children with Tang's disease have three major characteristics, one is a special face, the other is mental retardation, and the third is susceptible to infectious diseases. The special appearance refers to the fact that the baby with Down syndrome will have a flat nose, small cleft eyes, large eye distance, open mouth and tongue, very much saliva, sparse hair, thick and short fingers, etc.; in addition, it is manifested as drowsiness, feeding difficulties, poor learning ability, and low intelligence, so it is also called congenital stupidity.
Most babies with Down syndrome are accompanied by some organ deformities, such as congenital heart disease; their immunity is low, their resistance is poor, and they are often infected with various diseases. Such children, though said, are 50% able to live to adulthood through caregiving. But after the age of 30, it will develop an early-onset alzheimer's disease, which is what everyone calls Alzheimer's disease. Because it is a chromosomal disease that cannot be treated medically at present, it will cause a great burden on the whole family and society.
Why is it called Down syndrome?
Down syndrome, known in English as Down syndrome, was first discovered in 1866 by a British doctor named Don John Langton, who did not know the cause of the disease at the time. After nearly a hundred years, scientists discovered that it was a chromosomal disease. Later, in order to commemorate dr. Tang's great discovery, the World Health Organization called this condition Down syndrome.
Since Down syndrome is a chromosomal disorder, is it inherited from his parents?
This is also a concern for many pregnant women. Many pregnant women think that our entire family, both parents do not have this hereditary disease, then I do not need to do this Down screening? I want to tell you that more than 99% of this Down syndrome is a new, sporadic disease. The vast majority are not inherited from their parents. There is a third name for Down syndrome, called trisomy 21. This name is a good explanation of its pathogenesis, that is, the normal chromosome 21 has one more chromosome. The physical characteristics of each of us, what we look like, how our innate health is, what our IQ level is, these are all determined by our own genetic material, that is, genes. Genes are on chromosomes, and it can be said that chromosomes are the carriers of our genes. Normal humans have 23 pairs of 46 chromosomes, so the first 22 pairs, we call autosomes. He sorted from largest to smallest, the largest is chromosome 1, the smallest should be chromosome 22, but in the process of sorting, scientists have also made some errors, in fact, the smallest chromosome is chromosome 21. The 23rd pair of chromosomes, we call it the sex chromosome, is to determine the sex of each of our individuals, if an individual chromosome 23 has two X chromosomes, then it is a female, if he has an X chromosome, and another Y chromosome, then it is a male, under normal circumstances, our number of this chromosome can neither be more nor less, and now this chromosome 21 has such an extra, then of course he must be an abnormal individual.
What causes an extra chromosome?
More than 90 percent of the probability of this extra chromosome is from pregnant women. If a woman is pregnant at an older age, the more likely her egg cells are to make mistakes during the division process, if the mother gives the child an extra chromosome 21, the baby becomes a child with Down syndrome, so women should try to avoid pregnancy at an advanced age.
In addition to chromosome 21, will other chromosomes also increase?
In fact, our 23 pairs of human chromosomes may increase or decrease in the process of transmitting to the offspring, but because most of the chromosomes are relatively large and carry more genes, then when it is wrong, it is often aborted at different stages of the embryo. Fifty or sixty percent of embryos that are miscarried early may have chromosomal problems. Chromosome 21 is relatively small because it carries fewer important genes, so children are often able to survive. So much so that the most common thing we see clinically is trisomy 21.
What are the other two diseases that Tang Screening can screen for?
The second disease that Tang sieved was called Xanthodium 18 syndrome. As the name suggests, there is one more chromosome on chromosome 18, this kind of child also has a mental retardation and multi-organ multi-system developmental deformity, because chromosome 18 is larger than chromosome 21, carrying more genes, so most of this child will occur in the middle of pregnancy in the womb a stillbirth, only a very small number of children will live to birth, but he can live to two years after birth will be very small. The incidence of trisomy 18 is second only to trisomy 21. The third disease we want to screen for is called open neural tube malformation. It is a brainless child, spina bifida, these children, this kind of child basically can not survive, or there is a serious disability. This is closely related to the lack of folic acid in pregnant women, so women who are trying to become pregnant should supplement folic acid to prevent neural tube malformations.
When will this Down screening be done?
The timing of this Down screening is the 15th to 20th week of pregnancy plus six days. During this time period, we have to collect two milliliters of peripheral blood from pregnant women and test the indicators of certain special hormones in the blood. Combined with the pregnant woman's gestational age, age, weight, etc. Enter these conditions into the computer to calculate the probability of a risk.
Clinically, how are risk outcomes evaluated?
Screening will produce three kinds of results, one is low risk, one is high risk, one is critical risk, taking trisomy 21 as an example, low risk means it, that is, according to screening, the chance of this fetus suffering from Down syndrome is relatively low, but low risk does not mean no risk, because the detection rate of our traditional serum blood screening is relatively low, only sixty or seventy percent, that is, this screening will miss a part of Down's children. Because the incidence of Down syndrome is directly related to the age of a pregnant woman, if the pregnant woman is at low risk of screening, her age is less than 35 years old. Then we can have a normal obstetric examination in the future. If structural abnormalities in the fetus are found during the obstetric examination, this is still a prenatal diagnosis. However, if the pregnant woman is over the age of 35, regardless of the screening results, it should be treated as a high risk. If the screening results are high-risk, it means that the risk probability of the pregnant woman pregnant with a child with Down syndrome is relatively high, then at this time we recommend that he do amniocentesis and prenatal diagnosis to confirm the diagnosis. Of course. Prenatal diagnosis is an invasive examination, if the pregnant woman, she can not accept this invasive examination, or she has some contraindications to prenatal diagnosis, such as she has a symptom of threatened miscarriage, then how can we further reduce the risk at this time? She can also choose to do a non-invasive DNA test, this non-invasive DNA test, it also belongs to the category of prenatal screening, but it is more accurate than our traditional serological screening. If non-invasive DNA testing is still high risk, we can not terminate the pregnancy based on this non-invasive DNA result is high risk, it is still necessary to perform prenatal amniocentesis to prenatal diagnosis, even if the non-invasive DNA result is low risk, we can only say that it further reduces the risk of children with Down syndrome, but it does not eliminate the risk. There is also a result. It's critical risk, it's a gray area between low risk and high risk, for that. It is a very good choice for pregnant women to do noninvasive DNA.
How much does this Down screening method cost?
This examination is free in Shanxi Province, and the Shanxi Provincial Government has implemented a policy to benefit the people since 2017, and the prenatal diagnosis that high-risk pregnant women need to carry out is also free.
Since the launch of this Down screening, what kind of results have we achieved?
At present, we have been implementing free prenatal screening for more than four years, screening thousands of pregnant women every year. Every year, there are several cases of Down syndrome that can be diagnosed in advance before childbirth, which is of great significance to these families and society.
So, for the health of the child. It is still necessary for both spouses to go to the hospital in advance for prenatal examination. Thank you very much To Director Liang for explaining Down screening for us. Then if you still have any questions, you can go to the Maternal and Child Family Planning Service Center of our Municipal Medical Group to find our director Liang Fengxiu Liang for specific consultation.
Thank you again To Director Liang for being our guest at the "General Medical Health Lecture Hall". Thank you very much for watching. Our next episode of the show, not to see each other! Good bye!
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