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I saw the pregnant mother in the forum ask, what is Tang Siping and non-invasive DNA testing doing? Is amniocentesis necessary after non-invasive DNA testing? It happened that yesterday was the eighth World Down Syndrome Day. Today, let's talk about the differences between the three!
First, let's understand what is Down syndrome? Down syndrome, also known as trisomy 21 syndrome, or Down syndrome, is a disease caused by chromosome abnormalities (one more chromosome 21). The extra chromosome 21 brings Tang Baobao with obvious intellectual backwardness, special features, growth disorders and multiple malformations. The story of the famous conductor Zhou Zhou once made the public familiar with the disease.
The survey shows that: The social burden of the life cycle of each child with Down syndrome exceeds 1 million yuan, The older the pregnant woman, the higher the risk of having children with Down syndrome. As there is no complete and effective treatment plan for the disease, prenatal screening is an important line of defense to prevent the disease Z.
95 families avoid birth defects
In 2018, non-invasive prenatal genetic screening was fully launched in Wuhan. Both husband and wife are registered or permanent residents of Wuhan. Pregnant women over 30 years old can enjoy the project of non-invasive prenatal genetic testing free of charge. This item can save about 1400 yuan for each pregnant mother. Data from Wuhan Municipal Health Commission shows that: From January 1, 2018 to February 28, 2019, 29753 cases of non-invasive prenatal gene testing were carried out in the city, and 238 cases of high risk of fetal chromosomal abnormalities were detected. Among them, 95 cases of birth defects such as Down's syndrome were diagnosed through amniocentesis.
There are "multiple lines of defense" for screening Tang's children
As we all know, in order to avoid giving birth to Tang's children, pregnant women must do "Tang screening", so why do we do this non-invasive prenatal genetic screening? Under what circumstances does amniocentesis need to be done? Traditional Down screening
That is, prenatal serological screening of pregnant women in the second trimester, which is carried out between 14 and 20 weeks of pregnancy, to detect the corresponding serological indicators, and to combine the age, number of fetuses, weight, gestational week, thickness of transparent layer of neck and other relevant information of pregnant women ， The risk of Down syndrome in the fetus was calculated comprehensively. This is a universal, economic and non-invasive screening program for pregnant women, But the accuracy rate is only about 70%.
Noninvasive DNA detection At 12~22 weeks of gestation, the free DNA fragments (including fetal free DNA) in the maternal peripheral plasma were sequenced using a new generation of DNA sequencing technology. To detect whether the fetus has trisomy 21 syndrome (Down syndrome), trisomy 18 syndrome (Edward syndrome) and trisomy 13 syndrome (Padao syndrome). Its accuracy rate is more than 95%, And only peripheral vein blood collection is needed, which is very convenient. If the screening result shows "high risk", what should we do next if we really want to make a diagnosis?
"High risk" requires prenatal diagnosis When the prenatal screening result shows "high risk", it indicates that the probability of the fetus suffering from Down's syndrome is higher than that of ordinary pregnant women, and then a diagnostic examination is needed—— Amniocentesis or choriocentesis ， After the karyotype analysis of the fetus, it can be confirmed whether it is really a Down's child or other chromosome abnormalities. At present, amniocentesis is the commonly used technique for prenatal diagnosis of Z ， That is, under the guidance of ultrasound, select a safe puncture point, the puncture needle enters the amniotic cavity through the abdomen of the pregnant woman, extracts amniotic fluid, and collects fetal cells for chromosome karyotype analysis, so as to confirm whether the fetus has Down syndrome and other chromosome diseases. The advantage of villus puncture is that it can make a diagnosis at an earlier gestational week (11-14 weeks) (amniocentesis is usually performed at 18-24 weeks) 。 Ps: Wuhan Maternal and Child Health Hospital is the only hospital in the city to carry out this examination.
Free "benefits" continue Some young couples think that they are in good health and cannot give birth to Tang Shi'er; Or they thought that their family leader was very healthy, and they would be safe if they were pregnant again, so they ignored this aspect of the examination. But what I want to remind you is that 95% of Tang's children's parents are healthy people! Don't neglect this prenatal examination! Because in the process of germ cell (sperm and egg) formation, if affected by some adverse factors, the chromosome of germ cell may be distorted, This is a probabilistic event. Therefore, every pregnant woman is likely to give birth to a "Tang child", and the probability of giving birth to a Tang child is higher with the increase of the pregnant woman's age. Therefore, the mother who gave birth to Erbao should pay more attention. In 2019, pregnant women over 30 years old in Wuhan will still enjoy the benefit of free non-invasive DNA testing. I have written relevant posts before, and the links are here. If pregnant mothers have needs, please take a look! [Mother to be Classroom NO.11] How much do you know about free non-invasive DNA for 30 year old pregnant women? 20000 places in Wuhan this year
Precautions for welfare use In principle, the district maternal and child health care hospital where the husband and wife are registered is the first choice, and the permanent residence is the second choice. Details are as follows: 1. If both the husband and wife are registered in Wuhan, the pregnant women can choose to have the test in their own or the district maternal and child health care center (or the designated blood collection institution) where the husband's registered permanent residence is located according to the principle of voluntariness. 2. If only one of the husband and wife is registered in Wuhan, they should go to the Maternal and Child Health Hospital (or designated blood collection agency) in the area where the registered permanent residence is located for testing. 3. If both the husband and wife are permanent residents of Wuhan City with household registration outside the city, they should go to the MCH (or designated blood collection agency) in the area where they live for testing. (It can be proved by the neighborhood committee or its unit)
Here, I would like to remind you that couples who have given birth to a defective baby are recommended to go to the eugenics genetic counseling clinic of the relevant hospital before preparing for pregnancy again! After Z, I wish all the couples a healthy baby!
For more information about pregnancy, please pay attention to Yami Mabao
This post Z was edited by Yima Baoka at 15:32 on March 22, 2019
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