China's first MDT model successfully blocked the rare genetic disease gene test tube baby born

Severe combined immunodeficiency disease (SCID) is the most critical of a primary immunodeficiency disease, so many children live only one year old. However, the karyotype localization of PGD technology and the obstetrics and gynecology pediatric cross-linked medical model, so that a successful interruption of X-linked severe combined immunodeficiency disease of the third generation of test-tube baby successfully.

Meilun According to the investigation, which is no precedent in China, Fudan University Obstetrics and Gynecology Hospital 30, revealed that the lucky male baby weight 3700 grams, the physical indicators are good. By the Fudan University Pediatric Hospital check, the child immune function is normal.

It is reported that four years ago, the child's mother Wu Ting (a pseudonym) had a full birth of a baby boy, soon after birth, there will be a series of symptoms of immune deficiency, a variety of infections continuously. The pediatric hospital was diagnosed with severe combined immunodeficiency (SCID) and found the pathogenic gene, which was associated with IL2RG gene defect. Eventually, the child died after a serious infection in February.

Professor Wang Xiaochuan, primary immunodeficiency disease (PID) is a serious impact on children's life and health diseases, mainly due to immune organs, immune cells or immune molecules congenital differentiation abnormalities, leading to humoral immunity and / or cellular immunity Defects, death, high morbidity. Severe combined immunodeficiency disease (SCID) is the most critical of a primary immunodeficiency disease. Children generally born 1 to 2 months that the incidence of bacteria, fungi, viruses, and mycobacteria and other infections are lack of resistance, and repeated severe fatal infection, the vast majority of children do not have the opportunity to get timely diagnosis and stem cell transplantation treatment , And died within 1 year old.

The current genetics research shows that 50% to 60% of the disease is X-linked recessive genetic way, there are autosomal recessive way and the distribution of cases. "X-linked severe combined immunodeficiency disease" is a rare disease, in the normal population incidence of less than 1/10 million. After genetic testing found that children with pathogenic genes from the mother, Wu Ting X chromosome carrying IL2RG gene heterozygous mutation, while the male gene is normal.

According to reports, such diseases, Europe and the United States developed countries have a more complete management program, but China started late, in the PID diagnosis, treatment and so there are still many deficiencies. According to the Department of Clinical Immunology, Department of Clinical Immunology, Fudan University, after the admissions of Wu Ting, the pediatric hospital clinical immunology department immediately launched the MDT team of multi-disciplinary diagnosis and treatment. The team is a multidisciplinary platform established by Fudan University Pediatric Hospital and Obstetrics and Gynecology Hospital in 2015. It has integrated a number of well-known experts in the Department of Clinical Immunology, , Treatment and prenatal diagnosis and management program, greatly reducing the immunodeficiency of the family to seek medical time, for many patients to provide a more convenient and efficient way of medical treatment.

Wang Xiaochuan told reporters, in theory, Wu Ting couple born offspring, the boy 1/2 is normal, 1/2 for the patients; girls in the 1/2 is normal, 1/2 for the carrier. The expert said: "The most effective way is to receive assisted reproductive technology treatment, from the source to control the quality of embryos."

Fudan University Obstetrics and Gynecology Hospital, told reporters that 70% of congenital diseases can be prevented, the use of preimplantation genetic diagnosis (PGD), that is, the third generation of test-tube baby technology, Sexually transmitted diseases, to achieve birth defects "first-class prevention", and ultimately to achieve prenatal and postnatal care. Among them, karyotype gene chip technology is a rare way to end a single gene rare disease.

It is known that Chuan Ai Center is the first hospital in Shanghai to receive the official PGD qualification. As of June this year, Jiyuan Center has carried out more than 30 kinds of single gene rare disease assisted reproductive therapy, including progressive muscular dystrophy (DMD) , Β thalassemia HLA matching, hemophilia, Kennedy disease and other diseases.

June 2015, Wu Ting and his wife came to the Fudan University Affiliated Obstetrics and Gynecology Hospital Shanghai set love genetic and infertility clinics, they asked the director of Sun Xiaoxi detailed consultation, decided to use karyotype technology to achieve the desire to have a healthy baby. In 2016, she chose an embryo resuscitation without a pathogenic gene. Embryos successfully implanted and all normal development, the middle of pregnancy by amniotic fluid puncture prenatal genetic diagnosis, fetal chromosomes and the genetic disease gene and pre-implantation diagnosis before the results are exactly the same.