At 9:3 on March 21, at the International Peace Maternal and Child Health Hospital affiliated to Shanghai Jiao Tong University School of Medicine, the world's first pre-implantation genetic testing technology (PGT) blocked the health of the imprinted genetic disease Shaf-Yang syndrome. Baby born.
Ms. Wang has been pregnant 6 times and has given birth to three children through cesarean section. Among them, the eldest son and the young child are due to neonatal asphyxia and atelectasis, and died within two weeks of birth; the second son was diagnosed with cerebral palsy one week after birth, with severe mental retardation and stagnant functional development. A similar tragedy also occurred in the brother's brother's home of Ms. Wang's husband.
In 2016, Mr. Zhang took his child to the International Peace Maternal and Child Health Hospital affiliated to Shanghai Jiao Tong University School of Medicine. He was accompanied by Huang Hefeng, an academician of the Chinese Academy of Sciences, and Xu Chenming, director of the Department of Reproductive Genetics. Dr. Zhang Junyu from the Department of Reproductive Genetics conducted all-exome sequencing and bioinformatics analysis on the children. After detecting the candidate genes, the husband and wife and their family members were tested for genetic testing, and the diagnosis was Shaf-Yang syndrome.
The main clinical manifestations of Schaff-Yang syndrome are low neonatal muscle tone with difficulty in sucking, developmental delay, mental retardation, etc. It was first reported in 2013 by Professor Shaf and Yang of Baylor College of Medicine in the United States and named after them. Genetic syndrome.
In response to the situation of Ms. Wang and her husband, Huang Hefeng believes that the PGT can be used to complete the blockade of the family's genetic diseases and help them realize their parents' wishes. The technicians of the embryonic laboratory Wang Li and the genetics department Chen Songchang and others extracted the eggs and sperm of the couple and cultured and screened the completely normal early embryos. The Assisted Reproductive Department Jin Li Director's team aimed at Ms. Wang's 3 cesarean section and repeated curettage to cause repeated uterine effusion. Individualized treatment was used to improve endometrial receptivity to improve the success rate of embryo implantation. An embryo implanted in Ms. Wang's uterus was successfully pregnant. In December 2018, Wang Yanlin, director of the Prenatal Diagnostic Center, conducted prenatal diagnosis. The genetic diagnosis showed that the fetus did not carry the MAGEL2 gene-related pathogenic mutation, and the chromosome was not abnormal. This means that the genetic pathway of the Schaff-Yang syndrome family disease is blocked from the source by PGT technology. Ms. Wang’s multiple cesarean section resulted in a scar uterus, and the obstetrics director Gu Yu’s team escorted the entire procedure to ensure the success of the fourth cesarean section.
"Shaf-Yang syndrome is a rare disease caused by the pathogenic mutation of imprinted genes. Compared with conventional Mendelian genetic diseases, the genetic model and clinical diagnosis of imprinted genetic diseases are unique, so in clinical diagnosis and The pathogenicity analysis of genes is more demanding." Huang Hefeng introduced that Ms. Wang’s three bad birth history and the death of her husband’s three sons were all due to the loss of heterozygous mutations in MAGEL2 function from the father. Although the husband and his brother both carry mutations in MAGEL2, they are not ill due to the transmission from their mother. (Special correspondent Yang Jing correspondent Gao Yongtao)
Source: Health News Network
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