The world's first test-tube baby screened by whole genome sequencing technology

On July 22, 2013, Shenzhen Huada Gene Research Institute (hereinafter referred to as Huada Gene) and CITIC Xiangya Reproductive and Genetics Hospital (hereinafter referred to as CITIC Xiangya) jointly announced that they have successfully applied whole genome sequencing technology to in vitro fertilization Abnormal analysis of the obtained embryo chromosome. The successful application of this new technology has opened a new chapter in pre-implantation genetic diagnosis (PGD) and provided new options for people undergoing IVF treatment.

PGD ​​refers to the use of micromanipulation technology and DNA analysis technology to diagnose chromosomal abnormalities or genetic diseases of embryos before they are moved into the uterine cavity. Selecting non-abnormal embryos to be transplanted into the uterus to establish pregnancy, thereby preventing pregnancy in children with genetic diseases And born. Since 2010, CITIC Xiangya and BGI have combined PGD with a new generation of high-throughput sequencing technology, and have carried out embryo transfer for 33 couples. There were 22 successful pregnant couples, with a success rate of 66.7%. So far, 17 healthy babies have been born.

On August 24, 2012, the world's first test-tube baby screened by whole-genome sequencing technology was born in Hunan and weighed 2.4 kg. Scientists sampled seven blastocysts that developed in vitro to the fifth day. The genetic material in the cells to be tested is extracted and sent to BGI for testing. After a new generation of high-throughput sequencing technology and biological information analysis, three of the embryos were identified as having a normal karyotype. The doctor chose 2 normal embryos for implantation, and the patient had a single pregnancy. The baby is now 11 months old, and all developmental indicators are normal.

At the recent 29th "European Society of Human Reproduction and Embryology (ESHRE)" held in London, the research results of CITIC Xiangya and BGI were presented to more than 9,000 experts in the same field in the form of a conference report Unanimously agreed. The British colleague also announced in a subsequent report a test-tube baby who was screened by whole-genome sequencing technology.

Professor Lu Guangxiu, an expert in genetics and reproductive medicine, director of CITIC Xiangya Reproductive and Genetics Hospital, and one of the founders of Chinese Reproductive Engineering, said that this is the world ’s first test-tube baby to be screened by whole-genome sequencing technology. The field has a landmark meaning. Today, doctors can analyze chromosomal abnormalities in embryos before they are transferred into the uterus, and select embryos with normal karyotypes to avoid the risk of induced labor caused by abnormal development of the fetus due to chromosomal reasons after successful implantation. The application of this new technology provides a basis for doctors to choose embryos with normal genetics, which can effectively improve the success rate of test-tube babies and help special families to give birth to healthy babies.

Gabor Vita, a world-renowned professor in the field of human and animal embryology and a senior consultant of BGI, has expressed great enthusiasm and confidence in the comprehensive promotion of this technology in the field of assisted reproduction worldwide. Dr. Du Yutao, vice president of Huada Gene Health Group, also said that as the cost of sequencing technology decreases, the application of next-generation high-throughput sequencing technology for pre-implantation chromosomal abnormality screening will gradually become the choice of more and more people who need in vitro fertilization. To help more people give birth to healthy babies. With the innovation of sequencing technology and the optimization and upgrading of analytical methods, it is possible to perform certain genetic disease analysis and susceptibility gene analysis on single cells before embryo implantation, and even perform whole genome analysis on single cells of embryos, in order to improve the success of IVF Rate, effectively reducing new opportunities caused by genetic defects caused by miscarriage and birth defects.

Background information

Pre-implantation genetic diagnosis (PGD): Also known as pre-pregnancy diagnosis, it is a genetic diagnosis performed before the embryo is implanted into the uterus. Elimination of genetically normal embryos and implantation of only genetically normal embryos into the uterus is a positive eugenics. A way. Compared with the technique of drawing amniotic fluid for prenatal diagnosis in the middle to mid-pregnancy period, pre-pregnancy diagnosis because of the implantation of normal embryos, avoids the shortcomings of selective abortion after prenatal diagnosis finds fetal abnormalities.


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