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【Depth】 "Rare disease" becomes "invisible disease", whose "magic"?

Case playback

At 9:01 a.m. on December 28, 2021, the first case of "third-generation IVF" was successfully born at Chengdu Women and Children's Central Hospital in Sichuan Province (hereinafter referred to as Cheng women and children), with a baby weight of 3.5 kilograms and a length of 50 centimeters, which is a full-term fat boy. This is the first case of adult women and children using preimplantation genetic testing technology (also known as third-generation IVF technology) to diagnose normal embryos and produce healthy babies after transfer.

When she entered the Department of Reproductive Health and Infertility of Adult Women and Children, Xiao Xu (pseudonym) was 35 years old, and she had been pregnant three times before, but she could not save her because of abnormal fetal chromosomes.

On November 18, 2020, the adult woman and child obtained the third generation ivy technology trial run qualification, Xiao Xu and her husband completed embryo testing at the end of December 2020, obtained two normal embryos, and later due to the epidemic, they did not complete the embryo transfer until April 2021.

Take blastocyst trophoblast cells, send genetic laboratory testing, single embryo cryopreservation and recovery, embryo transfer, implantation, pregnancy, amniotic fluid testing in the second trimester, smooth childbirth... Every important detail of the third-generation IVF technology is a test. Good things grind a lot, and finally Xiao Xu and his wife are happy to have a noble son. This also means that the third generation of IVF technology for adult women and children is mature and successful in the whole chain.

Expert interpretation

Wang Fang, director of the Department of Reproductive Health and Infertility of Adult Women and Children, said: "Adult women and children have been implementing human assisted reproductive technology for 23 years. On the basis of the second generation of IVF technology, the third generation of IVF technology also needs to complete embryo biopsy, genetic testing, identification and follow-up work, which is not only a technical improvement, but also puts forward higher requirements for management and ethics. The focus of the third generation of IVF technology is the number of chromosomes, structure and the normality of specific genes, and the embryo transfer also needs to be continuously observed through amniotic fluid testing and other means until the baby is born safely, which can confirm that this technology is mature and successful in the whole chain. ”

In fact, the hospital in the third generation of IVF technology trial operation qualifications, on the basis of a series of preparations, Wang Fang said: "Our doctors need to be unified training in the national training base, the members of the national expert database will conduct on-site audit, observation, inspection of the operation of laboratory personnel, follow-up will also assess the accuracy of embryo testing, etc. In this process, the hospital ethics committee supervises and audits the whole process, and will be strongly involved in any link." "In addition, due to the specificity of the third-generation IVF technology is a single embryo transfer, the hospital needs to ensure an ideal treatment result." Therefore, adult women and children have done systematic management and big data analysis of single embryo transfer in this hospital to ensure that the interests of patients are protected to the greatest extent.

【Depth】 "Rare disease" becomes "invisible disease", whose "magic"?

△ Teng Wending, head of the embryonic laboratory of the Adult Women's and Children's Reproductive Center, is conducting a blastocyst biopsy operation.

Patients suitable for the third generation of IVF can be summarized into three categories: one is those who have a history of fetal chromosome number and structural abnormalities; the other is patients with single-gene genetic diseases (couples with high risk of giving birth to single-gene genetic disease offspring, and the diagnosis of pathogenic gene mutations in the family is clear or the linkage markers of pathogenic genes are clear), such as thalassemia, hemophilia, polycystic kidneys, phenylketonuria, Duchenne muscular dystrophy and other diseases The third is abnormal screening for chromosomal aneuploidy (refers to people whose husband and wife have normal karyotype of their own chromosomes, but there is a risk of conceiving abnormal chromosomal embryos, such as advanced pregnancies, people with a history of repeated miscarriages, and people with a history of repeated embryo implantation failures).

A few days ago, Wang Fang's outpatient clinic came to a patient who took the initiative to seek medical treatment, she suffered from a very serious genetic skin disease, the patient's father and grandmother have this disease, and it is more serious than the next generation, and when she comes here, it has been serious enough to affect daily life. The patient especially wants a baby, but she worries that her disease will be passed on to the baby. After our preliminary determination, she should suffer from a single gene genetic disease, if the genetic chain is determined, healthy embryos are selected as the third generation of IVF, then the child she gave birth to does not have this gene, and this so-called family genetic disease is blocked in her child's generation. Wang Fang gave an example.

【Depth】 "Rare disease" becomes "invisible disease", whose "magic"?

△ Wang Fang, director of the Reproductive Center for Women and Children, holds the newborn third generation of IVF.

In Wang Fang's view, the third generation of IVF technology is of great significance in preventing birth defects. "Every year we talk about caring for patients with rare diseases, and the state has included some expensive drugs for the treatment of rare diseases in the scope of medical insurance, but the best way to prevent tragedies is to intervene at the source." What we want to do is to make 'rare diseases' more rare, and let 'rare diseases' become 'invisible diseases'. Putting the third generation of IVF technology on the chain of preventing birth defects, in fact, the key is pre-pregnancy diagnosis, which is primary prevention. Wang Fang said.

For the future, Wang Fang has unlimited expectations, she said: "This reproductive medicine technology for the purpose of 'pre-pregnancy diagnosis, eugenics and eugenics' has been successfully operated in the whole chain of adult women and children, which is the result of the organic combination of the hospital's advantageous fields and technology platforms, and I believe that more people will enjoy the benefits brought by this technology in the future." ”

Source: Chinese Dictates

【Depth】 "Rare disease" becomes "invisible disease", whose "magic"?

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