On June 16, 2017, Huada Gene was stationed in Kunming, Yunnan Province to establish the first high-throughput Medical Laboratory for gene testing. Graphic / visual China
Two years ago, Lu Lu, a 38 year old Yang Er two child daughter, was born with a weight of 8 Jin. She did not cry or act like a quiet doll. Poplar willows are very popular.
The joy lasted for 42 days. Later, Lu Lu was diagnosed with Down syndrome. It was like being dragged into a nightmare, and Yang Liu did not sleep well again. She thinks left and right, pointing to hospitals and noninvasive gene testing (hereinafter referred to as noninvasive genes) as the root cause of Downs syndrome.
In July 13th, a report on the Hua Da canceration was fermenting on the Internet. A mother in Changsha, Hunan, was asked to question the role of the non invasive gene technology represented by Huatai because of its failure to play a screening role.
In the eighth years since the implementation of noninvasive gene detection technology in China, the technology has been pushed to the cusp of public opinion. The national health and Health Committee (hereinafter referred to as the state Wei Jian Committee) told the new Beijing News reporter that the technology has been carried out in 340 medical institutions with prenatal diagnosis technology. According to the results of domestic and foreign clinical studies, there are still false negative and testing cases. The majority of pregnant women should enhance their awareness of self-care and correctly understand the effects and limitations of various prenatal screening and diagnosis techniques.
Undetected Tang Shier
Lu Lu, who is two years old and three months old, looks different. She is a pretty little girl. After careful observation, she noticed that she was always crawling around aimlessly, pulling napkins out of the carton one by one and putting them in her mouth. The willow came up and scolded, and Lulu would only knock the floor with her hands, and shout in her mouth. You could not guess any emotion in her face.
Lulus analysis showed that she had one more chromosome 21, or trisomy 21 syndrome (Downs syndrome). Normal people are one to 21 chromosomes, but when the eggs or sperm of the mother or father are meiosis, the twenty-first chromosome is not normally separated, causing a 21 chromosome in the fetus. The patients had obvious mental retardation, special face, growth and development disorders and multiple malformations.
Lu Lu has a clinical feature of 80% of the Tang Dynasty. She had no nasal bones. She had an extra finger on her left thumb and weak muscles. Until now she couldnt stand upright on her legs, let alone walk. The only way to learn is father, mother.
Every Monday to Thursday, Lu Lu goes to the rehabilitation center for half an hours speech and physical rehabilitation training.
Willow took two years to accept it all. At first, she locked herself in the house and washed her face with tears all night. When her family went out, she had two gas, swallowed sleeping pills, and had antidepressant drugs, and the whole person almost collapsed.
If I had detected Tang Shi Er, I would not have let the child suffer in the future. Yang Liu said that when she was 14 weeks pregnant, Tianjin Huada Medical Laboratory issued a clinical report for her fetal chromosome test, the results showed that the risk was low.
Its a noninvasive gene recommended by my doctor, she told me many times. The result is good. Theres nothing wrong with it. I believe it. Afterwards, she found about fifty or sixty families with similar experiences.
In July 13th, a report on the Hua Da canceration was fermenting on the Internet. A mother in Changsha, Hunan, was told to question the failure of a mother of Huatai because of the non-invasive gene technology represented by Huatai, which led to the birth of a baby with chromosome 13 long arm deficiency syndrome and did not claim.
This article sparked heated discussions in a QQ group called noninvasive fake Yin. We all say that the accuracy rate of non-invasive gene is more than 99%, but we are less than 1%. This nearly 100 people QQ group, more than 30 years of age of maternal, distributed throughout the country.
According to statistics, more than half of the members of the group were the clinical reports of noninvasive gene detection from major hospitals or gene testing institutions, and were born down to the low risk.
The companies that provide these mothers with genetic testing programs focus on Huada Gene, Guangzhou Jinyu Medical Testing Center, Bairui and Kang and Hunan Jiahui.
The encounter of the group owner Li Ying is similar to the willow. In early November 2016, Li Ying received a report of non-invasive gene testing from the Hunan Jiahui Heredity Specialist Hospital. The result was low risk. The doctor glanced at it and said, its okay. Li Ying, 34, did not consider making a sheep pass again.
The boy was born with severe pneumonia. Several days later, more than 20 days after birth, he died of dyspnea. Two Tang Baos in the group have died of organ deformity and exhaustion, Li Ying did not expect, the birth of a second child into a life-and-death struggle.
What happened when sheep could be dressed directly? Whats the meaning of non-invasive gene existence, cheating money? was asked everyday in the group.
New technology of production inspection
Last year, Yang Lius husband bought a biology book called Chromosomes, Genes and Diseases, which he marked on 578 pages.
The book says that genetic testing requires a lot of samples to do data analysis, as close as possible as possible to a complete genetic map, and Id like to see how this noninvasive gene is done? he was looking for the answer urgently.
In 2008, Professor Lu Yuming of Chinese University Hong Kong found one more chromosome twenty-first from a fetal gene sample free from the blood of a pregnant woman to detect the 21- trisomy syndrome of the fetus. He applied the detection technology to technology patents and called it noninvasive gene detection.
Hwa gene was invited to participate in early research and development of technology. Zhao Lijian, director of the companys non-invasive genetic testing program, told the Beijing News that the detection rate of trisomy 21 was only 98%.
Before the invention of this technique, traditional methods of examining Downs syndrome were Downs screening and amniocentesis, along with other means such as prenatal ultrasound.
Two years after the invention of noninvasive gene detection technology, Huada gene extracted blood samples from 3177 pregnant women in three hospitals in Shenzhen and Zhuhai. Through the sequencing of fetal genes in the mothers plasma, the genome information of the fetus was analyzed and deduced, and the 21 trisomy, 18 trisomy and 13 trisomy (Downs syndrome, Edward) of the fetus were detected. Three kinds of chromosome number abnormalities were confirmed by amniocentesis. The average detection rate of the three abnormalities was higher than 99% and the misdiagnosis rate was 0.2%.
This validates the clinical applicability of non-invasive gene technology. Its progress is that the accuracy of the noninvasive gene is higher than that of the traditional Downs screening 65%-70%. And its a non-invasive way of birth inspection, Zhao Lijian concluded.
Amniocentesis can be carried out by karyotype analysis of the intact gene sequence of the fetus in amniotic fluid, and all chromosomal abnormalities are detected. The accuracy rate is almost one hundred percent. The only drawback was that the abortion and infection rate was 0.5%-1%.
But the noninvasive defects are also obvious. Zhao Lijian analyzed the case of the mother of Hunan. The partial loss of chromosome 13 is a problem of chromosome quality, but it can also lead to childrens mental retardation, dysplasia, malformation, and so on. At present, it is difficult to detect the birth defects of these tens of thousands of technologies.
If you use a puzzle to figure out the principle of noninvasive gene technology, the pieces of the puzzle are easy to find, so the detection rate of abnormal number of chromosomes is high. The short board of the puzzle is that the gaps in the patches are difficult to fill. These gaps are like abnormal fragments of chromosomes missing in the whole gene map of the fetus. It is difficult to guess what the missing color is, so the detection rate is not high. Zhao Lijian said. And Lu Lu, the daughter of the willow, belongs to the 1% missed diagnosis.
Based on the limitations of noninvasive genes and nearly 1% of missed detection rates, it is defined as a screening tool and a non diagnostic result. Zhao Lijian explained that if the result of noninvasive gene detection is low, the risk of fetal screening is very low, and other abnormal possibilities are not excluded. Doctors need to propose specific diagnostic recommendations based on the situation of the women and other prenatal examinations such as ultrasound.
Since the advent of non-invasive genetic technology, more than a dozen biotechnology companies have invested in non-invasive genetic testing projects to divide the prenatal diagnosis market. Since 2010, a total of 2.48 million samples have been collected from China. More than 16,230 fetuses with Downs syndrome have been detected and more than 70 cases have been missed.
From private to official approval
According to medical statistics, the incidence of Down syndrome in China is about 1/800. The report shows that the risk of Down syndrome increases with the age of pregnant women. At the age of 30, it is 1/1000, and at the age of 40 to 1/100, that is to say, the higher the age of the women, the higher the chances of producing the children.
As the age increases, the sperm and egg quality of men and women are declining, and the possibility of chromosome undivision at the time of cell division increases. The director of Obstetrics and gynecology in Air Force PLA General Hospital, now the director of Obstetrics and Gynecology of Taihe gynecology and obstetrics hospital, thinks that this is one of the important factors leading to the collapse of birth.
In 2013, the two child policy began to be implemented, and the older women were increasing. According to the statistics of the Beijing maternal and child health work data, the incidence of Down syndrome in Beijing was 1.09 per thousand (1/913) in 2014, up 0.06 per thousand than that in 2013.
In 2011, 3 of Liu Huapings 2000 newborns were born. Three parturients were 42, 37 and 30 years old, and pregnant women under the age of 30 were at high risk. Out of fear of abortion, three people did not do amniocentesis.
In 2010, the application of HDG to relevant departments for non-invasive gene technology licensing was not approved and could not be formally promoted.
Zhao Lijian and others heard that a hospital had just had an amniotic fluid puncture abortion. The pregnant woman stood at the hospital doorway for nearly two months, holding up the banners and shouting return my child. They think this is a good opportunity to promote noninvasive genes. Compared with the probability of amniocentesis, the noninvasive gene can greatly reduce this kind of doctor-patient problem. They began working with some hospitals to set up laboratories to carry out clinical research and application of noninvasive genetic testing.
Noninvasive genetic technology began to be popularized in private hospitals.
But in the process of popularization, non - invasive gene technology has also experienced the question of pseudo technology and swindling.
On the way, because of the qualification of foreign equipment, and the unordered competition of various companies, it caused the excessive boasting of technology and misleading patients. The original National Health Planning Commission and the food and Drug Administration Bureau had temporarily stopped the market access of non invasive genetic testing.
In 2014, the Chinese big gene research invented the first gene sequencing instrument and reagent in China, and the technology was finally recognized by law.
Recently, the National Health Committee report to the new Beijing News reporter said that in 2015, the former National Health Planning Commission in the 107 pre - production diagnostic institutions to carry out high throughput gene sequencing prenatal screening and clinical application of the pilot work. On the basis of more than one years pilot, the Committee issued the notice on the standardized and orderly conduct of prenatal screening and diagnosis of fetal free DNA in maternal peripheral blood (hereinafter referred to as the notice), and issued relevant technical specifications for the provision of fetal free DNA prenatal screening and diagnosis services for pregnant women during pregnancy to meet the needs of the masses. Please.
A year later, Liu Huaping took part in the training of the antenatal screening certificate, and found that noninvasive gene detection technology had been included in the examination, and the doctors who got the certificate issued a clinical diagnosis report on noninvasive gene technology.
In the wide application of new technology, only by strengthening the industry standard and popularizing knowledge update can the problem of the mismatch of demand and resources in medical consultation be solved, and the occurrence of Down syndrome can be reduced. Liu Huaping said.
Compared with the obscurity of understanding technology, the mother in the noninvasive sham group has more feelings in the operation of the hospital, too irregular.
An effective, accurate and comprehensive prenatal examination is still a traditional production test + gene screening + prenatal diagnosis for high risk people in a recent letter to the mother of pregnant women on the Huadas official website.
The National Health Committee responded to the Beijing News reporter that the clinical application of fetal free DNA prenatal detection in pregnant womens peripheral blood is similar to the level of prenatal diagnosis and target pointing accurate prenatal screening technology.
In addition, the National Health Committee said, according to the results of clinical studies both at home and abroad, it has been used for 21 trisomy, 18 trisomy and 13 trisomy prenatal screening, but there are still false negative and detection failure cases, which can not replace chromosome karyotype analysis (diagnostic gold standard) for prenatal diagnosis.
But Yang said, at first, doctors did not tell her about other diagnostic methods such as amniocentesis.
In September 2015, Yang Liu was in the hospital for inspection. After 37 years of age, after completing routine hematuria and ultrasound examination, the doctor advised her to do noninvasive genetic testing.
They say I am a senior maternal, and a second child. It is better to be a noninvasive gene. Yang Liu described two doctors who had volunteered to give her a noninvasive genetic test, but did not give her any instructions.
In November 5, 2015, Yang Liu received a clinical report from the Tianjin Laboratory of China test. The results were described as: 21 trisomy, 18 trisomy, and 13 trisomy of the fetus were low risk.
In the late B ultrasound examination, the doctor told her that the fetuss legs were short and her fetal position was not right, and she was consulted for the results of non-invasive gene detection. The risk of a noninvasive gene is low. Its not a big problem. Dont worry. She produced it at ease.
Reviewing the process of obstetric examination, the obstetricians never introduced the scope of application and the risk of missed examination of various prenatal screening and diagnosis methods to willow. In September 2017, she took the hospital to court on the grounds of failing to inform the doctor.
She took out the non - invasive genetic applications that she had signed, the clinical test report, the noninvasive prenatal screening brochure, and so on. Doctors dont say anything, you see these dense professional terms, like in the book of heaven, who can understand? Yang asked.
Pregnant women do not have the technical level to understand these instructions, Liu Huaping knows that medical advice, information and power is not equal to the harm to the doctor-patient relationship, she asked obstetricians must know to inform pregnant women of the scope of the application and risk of each test.
The National Health Committee responded to the Beijing news report that the free DNA detection technology of pregnant womens peripheral blood is only a link of prenatal screening and diagnostic technology. It is necessary to form a complete service chain with the upstream screening before screening and downstream diagnosis, follow-up follow-up, diagnosis consultation and other links.
According to the notifications of the health committee, only prenatal screening or prenatal diagnostic institutions can make a comprehensive assessment of pregnant women, and the prenatal screening program can be recommended for prenatal fetal free DNA prenatal testing. The prenatal screening agency must establish a cooperative relationship with the corresponding prenatal diagnosis agency, and the final clinical report needs to be produced. The former diagnosis agency.
No negative technology can be negated so that it supplements the traditional way of prenatal screening and diagnosis. Liu Huaping gave approval. For amniocentesis, the older the pregnant woman is, the more fear it is, and many people are resistant. Liu Huaping, for example, especially in the special circumstances of test-tube infants, mothers with RH-negative blood, hepatitis virus and so on, the risk of sheep wearing is greater than that of normal people.
In a series of prenatal screening tests, blood was also drawn, and Tang screening missed at least 29 percent more than noninvasive genes. From a methodological point of view, the Tang screen will calculate the age of pregnant women into the risk assessment of Downs syndrome, and it is not suitable for the older women, so we do not do the Tang screening for the pregnant women aged 35 or above. Liu Huaping felt that in such a difficult situation, noninvasive gene is the weapon to solve the problem.
Last year, Yang Lius lawsuit ended. At the court hearing, the hospital took out a prenatal diagnosis letter that had been written by Yang Liu: Require noninvasive genes, and signed its name below. She shook her head desperately, it is the doctor who asked me to write so. Yang Liu could not prove that the hospital was misleading and had to withdraw.
Unqualified hospitals were stopped
In early 2018, at the behest of her mothers in the crowd, Yang Liu found that hospitals that had done non-invasive genetic testing for themselves were not qualified to carry out non-invasive genetic testing programs.
Yang Liu ran to the hospital and pulled the hand of the pregnant woman in line. You must not listen to the doctor. You cant do noninvasive genes here. The doctor doesnt understand anything. Then she was taken away by a security guard.
In June 19th, Yang Liu was informed by authoritative channels that the hospital had never been approved as a prenatal diagnosis unit.
According to Li Yings statistics, more than 70% of mothers in Qunli and Yangliu had the same experience during the pilot period from January 15, 2015 to October 27, 2016. They couldnt erase the assumption that the birth of Downs baby might have been avoided if maternity tests were performed in a hospital that was qualified and capable of providing services.
Today, most hospitals without prenatal diagnosis have been stopped by the health committee.
At the end of October 2016, the former State Health Planning Commission issued the notice to replace the pilot work. The National Health Committee told the new Beijing News reporter that in May 2018, the health health committee compiled a list of 340 medical institutions approved to carry out prenatal diagnosis technology in the country as of December 31, 2017.
One week after the new specification, Li Ying saw this scene in Xian high tech hospital: a woman saleswoman at the door of the laboratory, counting 1800 yuan in one hand, the other hand quickly sent the application form and insurance policy, fill it out quickly. After two hours, she packed a pile of 5ml blood into a womans black handbag and walked into the black handbag. A small restaurant next to the hospital.
The relevant requirements of the National Health Committee said, the temporary preservation and operation of the room at room temperature, the need to use professional plasma preservation tube, and double review, Li Ying raised questions, who should supervise the protection of these links?
Regulatory loopholes and vacancies have not yet been fundamentally resolved. In the afternoon of July 20th, the reporters found that pregnant women knew little about noninvasive gene technology and standardized management. The reporter learned from the pregnant womens hospital that doctors had recommended them to do noninvasive genetic tests. He gave me a small square paper with a contact name called Fu Fang, said Li Yue, a pregnant woman.
In April 10th this year, Li Yue met Fu Fang. She recalled that the application materials included a recommendation physician.
Fu Fang introduced a non-invasive genetic project priced at 2300 yuan and 3860 yuan in two grades. She said that there are 32 items of expensive testing items, which are not clear in detail, and I strongly recommend that I make them expensive.
A week later, the noninvasive prenatal genetic testing report stamped with the Epony Optical Laboratory Center was sent to several pregnant womens homes.
In response to the chaos of non-invasive gene technology, the National Health Council said that they will work from four aspects, including the improvement of the pre - estate screening and prenatal diagnosis service network, the periodic publication of the list of national antenatal diagnosis institutions, and the selection of qualified medical institutions for prenatal screening. Inspection and diagnosis; carry out special regulation action, supervise the medical institutions to strengthen internal management, unimpeded complaints and reporting channels, investigate and deal with illegal and illegal behavior, take the initiative to accept social supervision, strengthen professional training, and constantly improve the ability of prenatal screening and diagnosis service and service level. In addition, it is encouraged to carry out extensive and diversified publicity and education activities, to educate the pregnant women to improve their awareness of self health care and to correctly understand the effects and limitations of prenatal screening and diagnostic techniques. (Yang Liu, Li Ying as a pseudonym) this article source: Beijing News Editor in charge: Xun Jianguo _NN7379
In response to the chaos of non-invasive gene technology, the National Health Council said that they will work from four aspects, including the improvement of the pre - estate screening and prenatal diagnosis service network, the periodic publication of the list of national antenatal diagnosis institutions, and the selection of qualified medical institutions for prenatal screening. Inspection and diagnosis; carry out special regulation action, supervise the medical institutions to strengthen internal management, unimpeded complaints and reporting channels, investigate and deal with illegal and illegal behavior, take the initiative to accept social supervision, strengthen professional training, and constantly improve the ability of prenatal screening and diagnosis service and service level. In addition, it is encouraged to carry out extensive and diversified publicity and education activities, to educate the pregnant women to improve their awareness of self health care and to correctly understand the effects and limitations of prenatal screening and diagnostic techniques.