became pregnant six times in succession, and two of the three children they gave birth unfortunately left within two weeks! The only surviving child was diagnosed with cerebral palsy one week after birth!
Long journey to seek a child, Mr. Wang and Ms. Zhang have experienced ups and downs, from disappointment to despair to rekindling hope!
htmlOn the morning of March 21, a baby's cry came from the operating room of the China Welfare Association International Peace Maternal and Child Health Hospital (hereinafter referred to as "national women and infants").
The family cried with joy! The child weighs 3030g and the birth score is full! A healthy baby!
This child is also a hard-won "baby" for medical staff in the Chinese women and infant reproductive medicine and obstetrics department.
This is the first newborn in the world to block the imprinted genetic disease Schaaf-Yang syndrome through PGT technology!
From despair to hope!
Speaking of this journey of seeking a child, from the words of the baby's father, Mr. Zhang, you can still feel the pain and hopelessness that this family once suffered.
Mr. Zhang admitted that his wife had been pregnant six times and gave birth to three sons through cesarean section, but both the eldest and youngest son died within two weeks after birth due to neonatal asphyxiation and atelectasis. The only surviving second son was also diagnosed with cerebral palsy one week after birth, with severe mental depression and stagnation of functional development.
The same tragedy also happened in Mr. Zhang’s younger brother’s family. The three sons they gave birth to unfortunately die within a few days after their birth due to the same situation. "We just want to have a healthy child like a normal family. We have been running around for more than ten years, went to many large hospitals, and did a lot of examinations, but there was no way. The doctor just speculated that this might be a familial genetic disease, but none of them could give further diagnosis, let alone effective treatment. After that, we gave up the idea of having our own children."
hopes to appear in 2016!
Mr. Zhang occasionally heard from friends about many cases of the third-generation assisted reproductive technology of Chinese women and infants. After blocking the news that a healthy newborn was born from genetic diseases, he came to the joint outpatient clinic of Academician Huang Hefeng and Director Xu Chenming of the Reproductive Genetics Department. Through Dr. Zhang Junyu and other scientists in the Genetics Department, the child was subjected to whole-exon sequencing and biological information analysis. After detecting the candidate gene, the couple and their family members were genetically tested and verified. Finally, they were diagnosed with Schaaf-Yang syndrome.
Schaaf-Yang syndrome is mainly clinically manifested as neonatal hypotonia with dysucking difficulties, developmental retardation, intellectual disability, etc. It is a genetic syndrome first reported by two professors Schaaf and Yang from Baylor College of Medicine in 2013 and named after them.
In response to the situation of Ms. Wang and her husband, Academician Huang Hefeng believes that the blockade of the family's genetic disease can be achieved by using PGT ( genetics detection technology before embryo implantation) to help them realize their wishes as parents. The team of Wang Li in the Embryo Laboratory and Chen Songchang, the Genetics Department, and other technicians extracted the eggs and sperm of the couple respectively, and cultivated and screened out completely normal early embryos. The team of Jin Li in the Assisted Reproductive Department used targeted individualized treatment to improve the endometrial receptivity to improve the success rate of embryo implantation and enable an embryo implanted in Ms. Wang’s uterus to successfully pregnant. In December 2018, Director Wang Yanlin of the Prenatal Diagnosis Center conducted an prenatal diagnosis. The genetic diagnosis showed that the fetus did not carry the MAGEL2 gene-related pathogenic variant and there was no abnormality in chromosomes. This means that the genetic channels for the family disease of Schaaf-Yang syndrome are blocked from the source through PGT technology. Under the full "escort" of the obstetrics director Gu Wei's team, this healthy baby, which no longer has the "birthmark" of the family nightmare, was finally born successfully.
genetic disease can finally stop being inherited!
"Schaaf-Yang syndrome is a rare disease caused by pathogenic variants of imprint genes. Compared with conventional Mendel genetic diseases, the genetic pattern and clinical diagnosis of imprint gene diseases have their own uniqueness, so the requirements are higher in clinical diagnosis and pathogenicity analysis of genes." Academician Huang Hefeng, director of the International Peace Maternal and Child Health Hospital of China Welfare Association, introduced that the
"MAGEL2 gene belongs to a gene that expresses maternal imprints from the paternal origin, has obvious paternal relative genetic characteristics, and its inheritance method is a special type of epigenetic.The mother of the newborn, Ms. Wang's three adverse childbearing history and three boys who died of her husband and younger brother were all caused by the loss of function of MAGEL2 from her father. Although Ms. Wang's husband and her husband and younger brother both carried the MAGEL2 mutation, the mutation was not caused by the transmission of their mother (the child's grandmother).
Because the disease has been named for more than three years and the incidence rate is low, it is a rare and difficult and complicated clinical disease.
This time, the Schaaf-Yang family gave birth to a normal baby through embryonic genetics diagnosis technology. It is a medical result of the joint research on assisted reproductive departments, reproductive genetics departments, obstetrics and prenatal diagnosis of International Peace Maternal and Child Health Hospital, as well as the active cooperation of patients and couples!
According to Director Xu Chenming, PGT technology, as the third-generation IVF technology, is a clinical technology to obtain high-risk eggs or early preimplantation embryos that transmit chromosomal diseases or genetic diseases through genetic testing, and to implant disease-free embryos into uterus and give birth to normal offspring after pregnancy.
In layman's terms, for couples with unexplained adverse pregnancy and birth history or who clearly carry serious pathogenic genes, this technology can block the genetic channels of some familial diseases from the source, that is, through assisted reproductive technology, a technology that first selects normal embryos and then implants them into the uterus to get pregnant to give birth to a healthy baby.
To date, Chinese women and infants have used pre-embryo implantation genetic diagnosis/detection technology to complete genetic diagnosis of more than 15,000 embryos, and successfully gave birth to more than 150 healthy babies.
This technical achievement is promoted in 26 provinces and cities across the country, allowing more families suffering from family genetic diseases to break up family nightmare, block the genetic disease channels from the source, and nurture a healthy next generation.
