[Xinmin Evening News·Xinmin.com] At 8:40 this morning, a baby girl was born in China’s welfare in the hope of everyone. International Peace Maternal and Child Health Hospital. Ms. Yang, the mother of the baby girl, waited for five years for this healthy child. Specially choose to carry out cesarean section on the “March 8” International Women’s Day to meet new life. Ms. Yang said with excitement, “This child is too difficult to come, it is the best holiday gift!”
Ms. Yang I have a lively and lovely son with my husband. Unfortunately, the child died at 5 months and the cause was unknown. Although Ms. Yang was heartbroken, the arrival of her second son gave her a new emotional sustenance. However, the child left her when she was 3 years old. This time, the doctor gave a clear cause: hemophagocytic syndrome.
The hemophagocytic syndrome is a series of clinical conditions caused by the uncontrolled activation of lymph, mononuclear macrophage system, hyperproliferation, and severe immunodeficiency caused by phagocytosis of self-blood cells caused by EB virus infection. The disease-causing gene of the disease is the SH2D1A gene on the X chromosome, which is an X-linked recessive genetic disease. Ms. Yang did not dare to become pregnant naturally. At the end of 2011, she sought medical advice from Professor Huang Hefeng, the dean of the International Peace Maternal and Child Health Hospital, who has extensive experience in the prevention and control of birth defects.
According to the detection results of key steps such as genetic testing and family separation analysis, Professor Huang Hefeng believes that PGD technology can be used (ie, the third generation of “test tube baby”, also known as preimplantation genetic diagnosis) Realize the genetic disease blockage of this family. Ms. Yang succeeded in pregnancy after taking eggs and in vitro fertilization and selecting high quality embryo transfer. But unfortunately came again, the embryo was implanted on the scar of the uterus. Due to the high risk, the final decision was made to induce labor.
In order to get a healthy child, Ms. Yang and her family suffer from the unimaginable pain of ordinary people. In 2014, she took the courage to ask for help again. This time, the technology has improved, and the gene trip problem that may have been encountered before has been successfully avoided. In the end, Professor Huang Hefeng’s team chose the best quality embryo implant for her, and Ms. Yang succeeded in pregnancy. Prenatal genetic diagnosis at 19 weeks of pregnancy showed no abnormalities in chromosome and pathogenic mutation sites and can continue pregnancy. Pregnant in October, giving birth. This morning, Ms. Yang’s family has a new member. Ms. Yang said that she is grateful for the PGD technology and rekindled hope for her family.
Link: What is hemophagocytic syndrome
The hemophagocytic syndrome is caused by the loss of control of lymphoid and mononuclear macrophage systems caused by Epstein-Barr virus infection A series of clinical conditions such as sexual activation, hyperproliferation, and severe immunodeficiency caused by phagocytosis of blood cells. The clinical manifestations are persistent high fever, liver, spleen, lymph node enlargement, complete blood cell reduction, abnormal blood coagulation, and multiple organ dysfunction. The disease was first reported by Risdall in 1979. The causative gene is the SH2D1A gene on the X chromosome, which is an X-linked recessive genetic disease. The carrier of the SH2D1A gene pathogenic mutation has a 50% chance of transmitting a disease-causing mutation in each pregnancy. If the next generation is a boy, there is a 50% chance of developing hemophagocytic syndrome; if the next generation is a girl, there is 50% of the possibilities are carriers.
Background material: China International Welfare Association International Peace Maternal and Child Health Hospital has developed pre-implantation diagnostic technology (third-generation IVF)
National Women and Baby Professor Huang Hefeng has completed the team Autosomal dominant polycystic kidney disease, mucopolysaccharide, hereditary mental retardation, Marfan syndrome, ichthyosis, Alport syndrome, hereditary bullous epidermolysis, oxidative phosphorylation deficiency type II, maple diabetes, non-gaming bulb PGD detection of more than 40 single-gene diseases such as proteinemia, painless and sweat-free syndrome, and hepatolenticular degeneration, PGD has been completed and genetic diseases of healthy newborns including spinal muscular atrophy (SMA) have been performed. Myasthenia dystrophy (DMD), ADA lack of severe combined immunodeficiency (ADA), multiple endocrine neoplasia type 2A (RET), thalassemia (HBA1/HBA2), familial osteogenesis imperfecta (COL1A1), multiple More than 10 single-gene genetic diseases such as skeletal type I (EXT1) and hemophagocytic syndrome (SH2D1A).
With the clinical application of SNP haplotype analysis technology based on NGS technology and karyomapping technology, the current national maternal and child infants can theoretically complete the PGD diagnosis of all single-gene disease families with clear genetic diagnosis and family history. jobs.
(Xinmin Evening News reporter Zuo Wei)