The first domestic use of MALBAC technology to block the birth of healthy twins with family hereditary deafness

The first domestic use of MALBAC technology to block the birth of healthy twins with family hereditary deafness

December 28, 2015 Source: Bio Valley

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Shocked hearing-impaired couple gave birth to deaf children

Time returned two years ago, a pair of ordinary couples from Shandong Auto Repair Factory came to the General Hospital of the People's Liberation Army, and Professor Dai Pu from the Molecular Diagnostic Center for Otorhinolaryngology Head and Neck Surgery conducted a detailed exchange. It turned out that this was a couple with completely normal hearing. They never thought that their children would be deaf. They celebrated their new life five years ago, but they were told that their children had congenital deafness. Collapsed. But for the children's hearing rehabilitation, they tried every means to travel all the time in Beijing and Shandong. Professor Dai Pu also implanted a cochlear implant for the child. After the operation, he needed repeated adjustments and language rehabilitation training, regardless of time or economy. There is a huge price to pay. At the same time, the desire to have a healthy child continues to sprout in their hearts.

The culprit husband and wife are autosomal recessive gene carriers

The child has a 1/4 chance to be deaf

After the genetic testing of the otologists, they were found to be carriers of the SLC26A4 gene mutation, and 25% of the progeny of their fertility were deaf patients, and the risk was extremely high. In the face of such a situation, they had to temporarily dispel the nature. The idea of ​​conception.

Four months of persistence and waiting for the ultimate healthy twins

In November 2014, they heard that Professor Dai Pu’s team made important progress in the research of the deafness gene PGD. Once again, they came to the 301 hospital. After learning the details and process of the new generation of PGD implementation, they decided to be the first. Family eating crabs. Dr. Bi Qingling and others worked and waited for four consecutive days and nights. A total of 17 embryos were obtained and cultured in vitro until day 5, and 3-5 blastocyst trophoblast cells were taken from each embryo for MALBAC-PGD testing. The detection report of MALBAC-PGD combined with the morphology of the embryos, selected two high-quality healthy embryos successfully implanted into the mother's uterus, and successfully conceived. Amniocentesis was performed at 20 weeks and it was found that the twins were normal. On December 10, 2015, the twins were born in 301 Hospital. After hearing screening of newborns and genetic testing of cord blood, it was verified that the two children were healthy babies with normal hearing.

This case combines the most advanced single-cell whole genome amplification technology (MALBAC) and next-generation sequencing technology in the world for the first time in the pre-implantation diagnosis (PGD) of hereditary deafness embryos, which can balance the micro-tissue of early embryos. Simultaneous diagnosis of all chromosomes while diagnosing monogenic hereditary deafness, accurately diagnose whether the embryo carries the sputum gene and completely eliminate the embryonic chromosomal disease; this is the first clinical practice of the new generation of PGD technology applied to deaf prevention worldwide, which is the transformation A model of success in medicine.

Another story of a deaf family

The experience of the second family was quite bumpy. Both husband and wife came from the rural area of ​​Tangshan, Hebei Province. A daughter with congenital deafness was born 10 years ago. Due to economic difficulties, there is no condition for cochlear surgery for children. The child has always relied on hearing aids. . In order to learn to speak, the child was sent to the full-school child rehabilitation school when she was less than 2 years old. The couple worked around to pay tuition for the child. However, due to the increasing deafness of children, hearing aids are getting worse and worse, and communication and learning are getting harder and harder. They are more eager to have a healthy baby and bring hope to the family. But unfortunately after two pregnancies, prenatal diagnosis proves that the child in the abdomen has the same deafness gene as the first child, and will be deaf. Both inductions were made during the nearly six months of pregnancy, causing great pain to the couple. After hearing that the PLA General Hospital had a new generation of IVF technology, the woman appeared very determined and did not hesitate to participate in the project. Professor Dai Pu's research team has provided some research funding for her. After three months of hard work, she also successfully conceived her child, and proved in the prenatal diagnosis that the child in the abdomen carries only one disease like his father. Genes do not cause deafness. We also look forward to the birth of this newborn.

Deafness from preventable to preventable breakthrough

There are more than 30,000 new cases of birth defects in China, and the number of delayed deafness in children is also very large. At the end of the past 12 years, Prof. Dai Pu led the team and traveled to the north and south of the motherland to collect 12,000 cases of deafness, revealing the main causes of deafness in Chinese people. It was found that GJB2 and SLC26A4 were the first and the first in the Chinese population. Two deaf genes. They developed a series of techniques and methods for the diagnosis of deafness genes, and established multi-level interventions for screening of deaf populations, screening for individuals in early pregnancy, screening for deaf-mute couples, screening for neonatal hearing and gene screening, and Pre-diagnosis prevents the birth of deafness offspring and achieves a breakthrough in preventing deafness from preventable to preventable. In 2013, Professor Dai Pu’s team won the second prize of National Science and Technology Progress Award for “Study on the pathogenesis of severe sensorineural deafness and intervention and application of birth defects”.

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