On January 29, 2016 (December 20, 2015 lunar calendar), our country's first "karyotype localization PGD" test tube baby was born. "Karyotype localization PGD" test tube baby According to the Fudan University Affiliated Obstetrics and Gynecology Hospital, our country's first test tube baby using karyomap gene chip technology for "pre-implantation single gene disease diagnosis (PGD) " was born on January 29, 2016, and the newborns had good physical indicators. It is reported that the karyotype localization gene chip technology was first introduced and applied to the clinic by Shanghai Jiai Genetic and Infertility Diagnosis and Treatment Center of Obstetrics and Gynecology Hospital Affiliated to Fudan University. This lucky "K Bao" became the first third-generation test tube baby to apply this technology in the country. About the genetic background of our country's first "K Bao" "K Bao" is the first baby in our country to be diagnosed before implantation by karyotyping technology. "K Bao" comes from a family where both parents are carriers of an autosomal recessive genetic disease - congenital adrenal hyperplasia (CAH). Therefore, the probability of "K Bao" suffering from CAH is theoretically 1/4. It is reported that "K Bao"'s parents had a daughter eight years ago, and she was diagnosed with CAH shortly after birth. CAH is a congenital disease, and there is currently no better treatment. "K Bao"'s parents were pregnant twice, and both were forced to induce labor due to prenatal diagnosis that the fetus had a genetic disease. Therefore, the parents of "K Bao" came to the hospital for medical treatment, hoping to select healthy and non-morbidity embryos through the third-generation IVF technology. After consultation with the Department of Genetics and the Department of Feminology of Jiai Center, an Obstetrics and Gynecology Hospital affiliated to Fudan University, for this single-gene genetic disease, they decided to use karyotype localization gene chip technology to help the couple. Karyotype localization technology has brought healthy "K Bao" to the international and domestic countries. The parents of the small "K Bao" obtained 4 blastocysts through ovulation induction, ICSI insemination and blastocyst culture. The technicians used micromanipulation technology to obtain 3-5 cells from the trophoblast cells, immediately perform DNA amplification, and then enter the embryo detection and analysis process. The two DNA strands of the couple, the child and the four embryos were arranged in the form of a core solo polymorphic fingerprint by karyotyping technology. The academic name of this fingerprint is haplotype. Through specific software, the two haplotypes of DNA carrying the disease-causing gene in the family can be found. Then the data of the embryo is interpreted to select the embryo without the disease-causing gene. Fortunately, there is a blastocyst that is neither diseased nor has other chromosomal aneuploid abnormalities! After blastocyst transfer, the embryo was successfully implanted and developed normally. After amniocentesis prenatal gene diagnosis verification, the fetal chromosome and the genetic disease gene are completely consistent with the previous gene chip results. The couple, who both carry the gene for congenital adrenal hyperplasia, have finally welcomed a healthy baby. Before K-Bao, two families in Melbourne and Sydney also had healthy babies with the help of karyotyping technology. Mike and Victoria are from Melbourne, and their first child, Charlie, developed a condition known as Congenital Myasthenia Syndrome (CMS), a neuromuscular disorder characterized by weakness and fatigue, where nerve and muscle cells meet. After they lost their first child, they realized they were both carriers of the rare disease, so they went to a Melbourne IVF facility for treatment, underwent karyotyping, and finally gave birth to a healthy baby boy. At the same time, Jono and Alex from Sydney also chose this technique. After Alex found out that she had inherited the BRCA mutation in her family, he decided to use karyotyping technology to select mutation-free embryos, resulting in a healthy baby girl without the BRCA1 mutation. Karyomapping PGD, the next generation of karyomapping technology for healthy fertility, was published in the prestigious journal JAssisted Reproductive Genetics in 2015. It is a preimplantation genetic diagnosis (PGD) technology used in conjunction with in vitro fertilization (IVF). It works by looking for unique genetic markers, like fingerprints, on chromosomes that carry defective genes. Using these markers, people can see the segment of chromosome where the gene of interest is located and determine whether it is inherited from the father or the mother. This allows scientists to determine whether the embryo has inherited a normal or mutated version of the gene, and thus to find out which embryos are affected and which are not - which may be the best candidate for implantation. Embryos obtained through in vitro fertilization undergo a biopsy procedure, in which one or more cells are removed from the embryo and tested for a specific disease. With this technology, expectant parents can detect the embryo's disease status before implantation and pregnancy. Karyotype mapping gene chip technology is a core solo? The chip designed with acid polymorphism (SNP) check point can simultaneously chain and analyze nearly 300,000 SNP check points, which has outstanding advantages in the application of preimplantation genetic diagnosis of single-gene diseases. The current haplotype analysis method for single-gene diseases must be individually designed for each single-gene disease, and the diagnosis cycle is very long, which takes 3-4 months and is expensive. The karyotype mapping gene chip is a universal platform for all single-gene diseases. It does not require individualized check point design, which greatly shortens the detection time. It can also perform pre-implantation aneuploid screening (PGS) at the same time, and the diagnostic success rate is close to 100%. This technology offers new hope to parents who carry dreaded genetic diseases, giving them confidence that their children and future generations will be spared these diseases. For some, PGD is the only hope.