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World's first third-generation IVF baby born to successfully block KIT gene-related rare disease, the “black spell” that has plagued a family for decades has been successfully broken.

The “black curse” that has plagued a family for decades has finally been broken. Recently, the world's first IVF baby who successfully blocked KIT gene-related rare diseases through PGT technology (Pre-implantation Genetic Testing) was successfully born with the help of a team from Shanghai First Maternity and Infant Healthcare Hospital (Obstetrics and Gynecology Hospital affiliated with Tongji University).

Li Xiaocui, vice president of the First Maternity and Infant Hospital, led a team from the Center for Reproductive Medicine to send gifts and flowers to the little baby's family at the first time, and the child's father, Hayden, couldn't stop smiling but couldn't help his eyes from reddening, as it was so hard for the baby to come.

Hayden, who is from Hubei, has had black spots on his body since he was one year old. With age, melanin in Hayden's face, limbs, torso to the amazing speed of sedimentation, spread, as if in the “black magic spell”.

At the age of 13, Hayden was accompanied by her parents to Shanghai to receive treatment and was diagnosed with an extremely rare hyperpigmentation disorder. After one laser treatment, the melanin in the skin improved, but over time, the melanin that had disappeared would come back. At one time, “turning himself white” was Hayden's greatest wish, but after getting married at 29, he hoped to have a healthy baby to free the next generation from the “black curse.

Last year, Hayden found the team of Teng Xiaoming, director of the Center for Reproductive Medicine at First Woman Baby. After comprehensive genetic testing and genetic counseling for the couple, the team finally found the causative gene - the extremely rare KIT gene mutation - among more than 20,000 genes.

“KIT can be translated as 'box' and the KIT gene is as mysterious as Pandora's Box.” Teng explained that KIT gene mutations include both loss-of-function and gain-of-function types, like the two ends of a scale, one black and one white. When there is a loss-of-function mutation in the KIT gene, it will lead to pemphigus, and the patient's hair and skin will show plaque-like abnormal whiteness; when there is a gain-of-function mutation in the KIT gene, it will lead to rare hyperpigmentation and gastrointestinal mesenchymal tumors, and the skin will be abnormally black.

Family genetic testing and analysis showed that Hayden's father carried the same KIT gene mutation. Although his father is only a little darker than average, the older gentleman had a tumor surgically removed five years ago, and the pathology report showed it was gastrointestinal mesenchymal tumor. Mr. and Mrs. Hayden also have a 50 percent chance of having a baby with hyperpigmentation, and the child has a high risk of developing gastrointestinal mesenchymal tumor in the future.

After completing the genetic diagnosis, Professor Wang Yu, director of the Center for Reproductive Medicine at First Women's Infant, and Teng Xiaoming led a joint diagnosis and treatment team for Hayden's rare disease. The Center for Reproductive Medicine team developed a PGT fertility program for the Hayden couple to block the family transmission of the KIT gene mutation. Through ovulation induction, in vitro fertilization, embryo culture, and blastocyst biopsy, the Haydens were able to obtain five blastocysts and detect two embryos that did not carry the paternal KIT gene mutation. Non-invasive prenatal monogenic disease testing at mid-pregnancy again validated the results of PGT.

Just a short time ago, a lovely little life was born. Cord blood genetic testing showed that the child did not carry Hayden's disease-causing mutation. Looking at the fair-skinned baby in their arms, Mr. and Mrs. Hayden's heart finally dropped, and they took a precious “family photo” with a team of doctors from First Woman Baby.

The Center for Reproductive Medicine has established a diagnostic and PGT platform for more than 500 single-gene disorders, successfully blocking and preventing the transmission and occurrence of dozens of single-gene disorders such as progressive muscular dystrophy, deafness, hemophilia, polycystic kidney disease, and neurofibroma. The Center is also the first to conduct comprehensive carrier screening for people preparing for pregnancy, which can screen for more than 400 recessive and dominant genetic diseases at one time, helping couples to understand the carrier status of genetic variants and the risk of having children, and preventing the occurrence of genetic diseases from the source.