On September 5th, the scientific and technological achievements were identified by the Hubei Provincial Institute of Science and Technology Information, and it was determined that it was the first case in the world. On the morning of September 6, Jimu reporters connected to this

2025/01/2823:25:36 regimen 1360

Jiomu Journalist Guan Qianyu

correspondent Ma Tingting Chen Juan

a few years ago, the world's first successful blockage of craniotomy nasal syndrome genetic diseases were born at Shiyan People's Hospital, Hubei. On September 5th, the scientific and technological achievements were identified by the Hubei Provincial Institute of Science and Technology Information, and it was determined that it was the first case in the world. This means that single -genes such as skull nose syndrome can be completely blocked to spread to future generations.

HTML on the morning of September 6, Jimu reporters connected to this healthy baby's mother sweet (pseudonym). On the phone, she said excitedly: "My daughter is an embryo selected by the third -generation IVF. Come to get blood for the child, do verification, and determine that my child will not have this strange disease like me. She is very beautiful and healthy. I am very grateful to Shiyan People's Hospital. On June 28, a loud cry came from the operating room of Danjiangkou People's Hospital. When I saw a handsome, rosy, and crying baby, we cried sweetly.

sweet and mother suffer from cranial nasal syndrome, that is, maxillofacial deformity. The husband's family is worried that the sweet and strange appearance will be passed on to the next generation. Two years after marriage, sweetness has not been able to get pregnant. The couple go out to work and make money while treating infertility . Because of the sweet appearance problem, it is difficult to find a suitable job. In the past, sweetness was still not pregnant. At the suggestion of a good neighbor, the couple came to the Reproductive Medicine Center of Shiyan People's Hospital to prepare for IVF.

, Professor Deng Yan of the hospital, gave them a genetic consultation. gene test report shows that sweetness and their mothers carry EFNB1 hybrid disease variation. Deng Yan introduced that the mutation will lead to the cranial forehead and nose syndrome, which belongs to a very rare genetic disease. It is one of the more than 8,000 single -gene genetic diseases currently known. Among the 121 rare diseases of the directory. The main clinical manifestations are: female patients have poor eardoral development, asymmetry of skull surface, premature closure of skull seams, double -cracked nose tip, nails, hair hardened, and abnormal sternum skeletal, while men usually only show width of the eye distance. The special appearance characteristics of patients often bring great trouble and trouble to patients.

On September 5th, the scientific and technological achievements were identified by the Hubei Provincial Institute of Science and Technology Information, and it was determined that it was the first case in the world. On the morning of September 6, Jimu reporters connected to this - DayDayNews

gives the baby to verify the photo of the blood. EFNB1 gene mutations are caused by X chain explicit genetic disease . The rare disease is mainly inherited from the patient's mother, patients and their mothers carry the pathogenic variation of the gene. After analysis, Professor Deng Yan believes that the couple's infantile descendants suffer from the risk of the disease of the disease 50%, and they can obtain a healthy offspring through the third -generation IVF technology. After the detailed genetic consultation of

, the sweet couple is very pleasant. Now it can not only solve the problem of infertility, but also solve the major hidden dangers pressed in the heart of the family. No longer need to worry about the sweet appearance, it will be inherited to the next generation. Essence The couple gladly decided to take the third -generation IVF pregnancy at the Reproductive Center of the People's Hospital of Shiyan City. In response to the actual situation of the couple, Dr. Zhang Ying, the director of the center, led the team to decide after discussion, allowing patients to enter the genetic diagnosis and treatment cycle before the embryo implantation, that is, the chromosomal and genetic test of the embryo, and then the solemnity will not be carried. The embryo of the diseased gene is implanted into the uterine pregnancy and gave birth to a healthy baby.

On October 18, 2021, the seventh day after ovulation was once again underwent embryo transplantation surgery. On November 1, 2021, the long -awaited double bar finally appeared! After ten months of intense and long waiting, on June 28 this year, the sweet and sweet baby girl weighed a 3.3 kg. After genetic testing, genetic learning verifies that the baby's health is normal.

Technology Report

Director

said that this scientific and technological achievement is the first case of the world after the new search of the new search center ( National Invention Award Project Project Project).This achievement has gathered a number of cutting -edge precision medical technologies accumulated by the Reproductive Medicine Center of Shiyan City for more than 20 years, including genetic testing technology, SNP polarization technology, ovulation technology under the abdominal ultrasound, embryo, embryo Pre -implanted genetic diagnosis technology, "planting window" gene testing technology, etc., marks the technical strength of the IVF technology of the Reproductive Medicine Center of the People's Hospital of Shiyan City, is at the forefront of the country. Infertility provides strong technical services for couples with genetic problems.

(the picture is provided by Jimou News Correspondent)

(Source: Polar News)

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