Type 2 diabetes prevention and control starts with embryo!This doctor did it!

At 13:55 pm on August 2, 2022, with a loud cry, an extraordinary baby boy was born in the operating room of the Obstetrics and Gynecology Hospital affiliated to Fudan University. This is the first successful case of the first application of embryo-type diabetes 2 diabetes polygenic genetic risk assessment (PREIMPLANTIC TESTIC TESTING for Polygenic Disease (PGT-P) technology (hereinafter referred to as PGT-P technology).

Academician Huang Hefeng's team innovatively proposed a multi-gene risk scoring method based on family genetic information. Through the model of the genetic risk assessment model of the multi-gene disease, combined with the comprehensive analysis of the genotype of the family member of the type 2 diabetic family, the embryo Multi -gene genetic risk assessment, choosing embryos with the lowest genetic risk of type 2 diabetes for transplantation and clinical pregnancy. This provides a feasible medical technology for the source of chronic diseases and takes a historic first step.

Family members are troubled by type 2 diabetes

Mr. Yu and his wife were not pregnant 6 years after marriage. The examination found that the man's sperm quality was poor, and at the same time suffered from severe type 2 diabetes. Many relatives of the family also suffered from severe diabetes (including grandpa, father, two uncle and two cousins). All, insulin therapy. Moreover, the age of his own and cousin is more advanced than his parents. He needs to take drug treatment for a long time, which has been troubled by the disease.

Mr. Yu's husband and wife went to the reproductive genetic combined clinic of Academician Huang Hefeng/Researcher Xu Chenming, hoping to use the team's professional auxiliary reproductive technology to have a baby, and he also hoped that the baby would avoid the problem of type 2 diabetes in the family.

Considering the complexity of this family department, many family members suffer from type 2 diabetes, and relatively early occurrence, Academician Huang first considers the genealogy of the genes of the single gene. Clarify the pathogenic monomer variation. Academician Huang informed the patients of the patients and his wife's embryos. When the patient and his wife thought it was no way, Academician Huang told them that the teratologist seriously affected the fertility of men. Even if the auxiliary reproductive technology was used to make the woman conceive, the risk of the non -rectification of the embryo was increased. There are PGT-A clinical indications. Therefore, the remaining samples of PGT-A detection can be used to try the PGT-P technology of multi-gene disease to detect the embryo, and the PGT-A detection is preferably low-risk embryo transplantation for diabetic embryos in the proprietary embryo to reduce the risk of patients.

PGT-P technology is a complex disease, including type 2 diabetes, coronary heart disease, etc. during the auxiliary reproductive process, and conducts multi-gene disease genetic risk assessment of embryos through multi-gene genetic risk scoring methods to screen for embryonic transplantation with the lowest risk of diseases. , To achieve first -level prevention and control of multi -gene genetic diseases.

I want to carry out PGT-P technology, but they face two major challenges

In the end, Mr. and wife of Mr. Yu considered carefully that although PGT-P technology could not completely block the inheritance of the target disease through PGT technology like a single genetic disease, it can still reduce the baby's future 2 type 2 through the preferred low-risk embryo to reduce the future of the baby. The risk of diabetes has undoubtedly brought a line of hope for this family who has been suffering from diseases for a long time. The couple strongly requested the PGT-A and PGT-P test, submitted an ethical application to be approved by the Hospital Ethics Committee.

Due to the deficiency of the Chinese -type diabetes reference genome database, how to build a multi -gene risk score (PRS) model that can accurately predict the disease? PGT-P's analysis materials are only 3-5 cells. How to obtain sufficient SNP sites in such a small amount of cells for PRS for diseases? This is the two biggest challenges to the PGT-P's biggest PGT-P.

After several months of check -up, successfully constructed the family -based PRS+model

Therefore, Academician Huang proposed that the type 2 diabetes PRS model established based on large -scale GWAS data will first perform risk scoring algorithms in the British biogask and 27497 diabetes individuals in the UK BioBank. Test and verify, and then allocate different weights to different risk sites according to factors such as family genetic background and gender, and build a PRS+model based on Mr. Yu's family. Non -European queue has limited shortcomings. After several months of research, the family -based PRS+model is completed. Verification shows that the established optimized PRS model has a good prediction ability in each individual in the home system and can be effectively applied to the family's PGT-P.

Kung Fu is worthy of care. After detailed genetic consultation by Academician Huang's clinic, Mr. Yu and his wife finally waited for a day when PGT-A was able to start PGT-A and perform PGT-P at the same time. After two rounds of ovulation, a total of 16 embryos could be performed. In order to overcome a small amount of cells in the process of amplification, the part of the part of the location is deleted, and the team adopts the strategy based on ChromsWift amplification technology and genotype filling to perform all genome detection and multi -gene risk scores on the embryo (POLYGENIC RISK Score, PRS), predicting the risk of susceptibility to the susceptibility of embryo. With the consent of the patient, the number 1 embryo transplantation with a chromosomal rectification and a low risk of diabetes, successful pregnancy, pre -birth, fetal amniotic fluid cell PRS analysis shows that the accuracy of the PRS score of the embryo is equivalent to the amniotic fluid cells and good consistency. Due to the older age and the risk of complications during pregnancy, the risk of complications of pregnancy is relatively increased. After pregnancy, the red house obstetric team is escorted at the same time. The entire pregnancy is stable and the pregnancy ending is good.

Multi -gene genetic disease

Multi -gene genetic disease refers to a type of genetic disease that is controlled by multi -pairing genes and also affected by environmental factors. Common genetic genetic diseases include birth defects (cleft lip and palate, congenital malformations, congenital pyloric stenosis, etc.), endocrine metabolism (diabetes, PCOS, etc.), tumor (family bowel cancer, lung cancer, etc.).

At present, the incidence of chronic diseases such as hypertension and diabetes is increasing. For a long time, the health management and treatment of patients have occupied a large number of public health resources. The society has to cope with the heavy burden brought by such high incidence of diseases. For those with a family history of diabetes, children have higher risk of diabetes than normal people. In view of the fact that the prevention effect of slow diseases in adults is not satisfactory, forcing us to take a different approach and seek breakthroughs from a new perspective: PGT-P (genetic testing-polymidal disease before embryo) technology The first step also provides theoretical and technical basis for other sources of chronic diseases that is highly related to heredity in the future. In the future, the team will also conduct PGT-P prevention and control of multi-gene diseases such as breast cancer.

The countdown to register for the joint tour of the four -city subway in the north! 8 special columns are about to start!

Source: Affiliated to Obstetrics and Gynecology Hospital of Fudan University

Capture: Liu Zibo

Edit: Liu Zibo

- END -