Speaking of moles.
A lot of people have it.
But if the mole is all over the body.
became a "little black man".
Can you still calm down?
There is such a family.
Because of genetic problems, they are deeply trapped in the "black curse".
They don't even dare to give birth to the next generation.
But through the joint efforts of the doctors.
Finally gave birth to a new life in Shanghai!
On December 14, with a loud cry, the world's first IVF that successfully blocked the rare pigmentation disease gastrointestinal stromal tumor associated with the KIT gene through the third-generation IVF technology fell to the ground. A "black curse" that has plagued the family for decades has been completely broken in Shanghai First Maternity and Infant Health Hospital (Obstetrics and Gynecology Hospital Affiliated to Tongji University).
At the scene, the baby's father, Hayden (not his real name), smiled from ear to ear, but when he looked closely, his eyes were red. What kind of ups and downs has this small family experienced?Behind the birth of this little baby, how many people's efforts are contained?The story has to start with Daddy Hayden......
Hayden (pseudonym) and a newborn healthy baby Courtesy of the interviewee.
A bitter childhood under the "Black Curse".
Hayden, from Hubei, has been suffering from black spots since he was 1 year old, and as he grows older, melanin spreads at an alarming rate on Hayden's face, limbs, and torso.
It was as if he had fallen under the "black spell".
The whole body is scarily dark.
His former classmates began to isolate him, and strangers pointed fingers behind his back. The pressures of life and psychology caused great pain to the young Hayden, and he began to become depressed.
At the age of 13, Hayden traveled to Shanghai with his parents and was diagnosed with an extremely rare form of familial pigmentation. He began to travel back and forth to Shanghai frequently, receiving lasers again and again**, and his melanin has been greatly improved, but over time, the disappeared melanin will grow back.
The optimistic Hayden did not complain, he was positive, studied hard, and worked hard. At the age of 29, he has already formed a happy family with his beloved. Today, his greatest wish is to give birth to a healthy baby and free the next generation from the "black curse".
Genetic diagnosis "lifts the dark clouds and sees the sunrise".
More than a decade ago, the underlying cause of Hayden's illness could not be diagnosed due to limited genetic testing technology. "I'm afraid that my child will have to go through the same childhood pain and criticism as I do", which is also the biggest worry in his heart, so he is afraid to get pregnant.
Last summer, Hayden approached Teng Xiaoming, director of a center for maternal and infant reproductive medicine who had been following his illness for 16 years. The couple underwent comprehensive genetic testing and genetic counseling in the hospital, and finally found the real cause of the "black curse" that had plagued him for more than 20 years from more than 20,000 genes - an extremely rare KIT gene mutation.
Kit, when used as an English word, can be translated as "box". Amazingly, the gene kit is also as mysterious as Pandora's box.
When there is a loss-of-function mutation in the KIT gene, it can lead to mottled disease, and the patient's hair, **, is manifested as a plaque-like abnormal graying;
And when there is a gain-of-function mutation in the KIT gene, it causes rare pigmentation and gastrointestinal stromal tumors, ** with abnormal blackening, just like Hayden.
Mutations in the KIT gene are rare in the world and are currently known to be reported in the literature.
There are only a dozen cases of patients in the world.
Genetic testing and analysis of the pedigree showed that Hayden's father also carried the same KIT gene mutation, and that the father was only a little darker than the average person, and that he was not as unusual as Hayden. What is even more concerning to doctors is that the mutation in the KIT gene not only causes pigmentation, but also can lead to gastrointestinal stromal tumors, which coincides with the pathology of the tumor that Hayden's father surgically removed five years ago.
PGT technology blocks the "Black Curse".
After completing the genetic diagnosis, Professor Wang Yu, director of the First Maternity and Infant Reproductive Medicine Center, and Professor Teng Xiaoming, director of the Department of Assisted Reproductive Medicine, led the establishment of a joint diagnosis and treatment team for Hayden's rare disease. After genetic counseling, the Haydens learned that they had a 50 percent chance of having a baby with pigmentation, and that the baby was at high risk of developing a gastrointestinal stromal tumor in the future.
In order to break the continuation of this "black curse".
Center for Reproductive Medicine Team.
A new law on governance has been enacted.
PGT (full name "preimplantation genetic testing", refers to the genetic testing technology for embryos successfully fertilized by IVF before implantation in the uterus) fertility program, couples through ovulation induction, in vitro fertilization, embryo culture, blastocyst biopsy, successfully obtained 5 blastocysts. After genetic testing, a total of 2 embryos without paternal KIT gene mutations were detected. The doctor communicated with Mr. and Mrs. Hayden to select an embryo for transfer and the pregnancy was successful. In the second trimester, the results of PGT were re-verified by non-invasive prenatal monogenic disease testing.
This winter, a cute little life was born.
Cord blood genetic testing showed that the child did not carry the father's disease-causing mutation.
Hayden's baby.
Completely broke the family's "black curse".
Looking at the fair-skinned baby in his arms, Hayden and his wife's hanging hearts finally fell, and a team of maternal and infant doctors happily took a precious "family photo".
The Hayden family and the team of doctors took a "family photo".
Bless this family, and praise for the magic doctor!
*: Shanghai First Maternity and Infant Health Hospital, Xinmin Evening News (Reporter: Gao Yang).