Screening of genetic diseases in three generations of test tube infants in Chengdu
In some famous hospitals in Chengdu, such as West China Hospital of Sichuan University and Southwest Hospital, the third-generation IVF technology has been widely used. In order to ensure the health of embryos, genetic disease screening and embryo health assessment are essential links.
Embryo genetic detection technology
Embryo genetic detection technology mainly includes two methods: the first is nucleic acid hybridization technology, which can detect single gene genetic diseases and chromosome abnormalities; The second is whole genome sequencing technology, which can detect more kinds of genetic abnormalities.
Nucleic acid hybridization technology combines DNA or RNA probes with target sequences in embryonic cells, and determines whether there are related genetic diseases through color reaction. This technique can detect some common genetic diseases, such as Down syndrome and thalassemia.
Whole genome sequencing technology can detect variations in the whole genome, including single gene mutations, chromosome structural abnormalities and quantitative abnormalities. This technology is better for screening rare diseases.
The process of genetic disease screening
Genetic disease screening is usually divided into three stages: first, family investigation, through asking family genetic history and other information to determine the possible risk of genetic disease; Secondly, the parent-child relationship is confirmed, and the parent-child relationship between the embryo and the parents is determined through DNA analysis; The last is the embryo gene detection. Through the embryo genetic detection technology introduced above, the embryo is screened for gene mutation, chromosome abnormalities, etc.
These screening needs to take samples from the process of egg taking, fertilization to embryo culture for testing. Generally speaking, the process of egg retrieval is guided by ultrasound. The eggs are extracted through vagina and then combined with sperm in vitro. After the fertilized egg is cultivated to a certain development stage, the doctor will take a cell sample on the embryo for testing.
Methods of embryo health assessment
Evaluation of embryo appearance
Embryo appearance evaluation is a simple and effective method to evaluate the quality and health of embryos by observing their morphology. This method is mainly based on the uniformity of the embryo, the number of cells, cell morphology and the size of the blastocyst cavity.
The evaluation of embryo appearance can preliminarily determine whether there are chromosome abnormalities, slow development or other problems in the embryo. However, this evaluation method cannot determine whether there is a specific genetic disease mutation in the embryo, so it needs to be further evaluated with genetic detection technology.
Embryonic Genome Assessment
Embryonic genome assessment is the assessment of gene mutation, chromosome abnormality and quantitative abnormality of embryos through whole genome sequencing technology. This method can comprehensively understand the genetic health of embryos and provide more accurate basis for embryo selection.
Some common genetic diseases, such as hereditary retinitis pigmentosa and blastodermal fibrosis, can be screened out through the evaluation of embryonic genome. At the same time, some rare mutations can be found in advance to avoid implanting embryos with genetic disease risk into the uterus.
Dynamic assessment of embryonic development
Dynamic assessment of embryonic development is a method to assess the health of embryos by monitoring the characteristics of each stage of embryonic development. The doctor will observe the cell division of the embryo, the expansion of the blastocyst cavity and other indicators to assess the development potential of the embryo.
This evaluation method can simultaneously detect abnormal embryonic development and chromosomal abnormalities, and assist in judging the quality of embryos. Through the dynamic evaluation of embryo development, doctors can more accurately select healthy embryos for implantation and improve the success rate of IVF.
Summary
In some famous hospitals in Chengdu, such as West China Hospital of Sichuan University and Southwest Hospital, the genetic disease screening and embryo health assessment of third-generation IVF are conducted by using advanced embryo genetic testing technology.
The main genetic disease screening methods include nucleic acid hybridization technology and whole genome sequencing technology, through which genetic abnormalities such as single gene genetic diseases, chromosome abnormalities and quantitative abnormalities can be detected.
The methods of embryo health assessment mainly include embryo appearance assessment, embryo genome assessment and embryo development dynamic assessment. The evaluation of embryo appearance mainly evaluates its quality and health status by observing the morphology of the embryo. The evaluation of embryo genome is conducted by whole genome sequencing technology, which can comprehensively understand the genetic health status of the embryo. Dynamic evaluation of embryo development assesses the health status of embryos by monitoring the characteristics of each stage in the process of embryo development.
The application of these methods can improve the success rate of IVF, reduce the risk of genetic diseases, and bring more healthy babies to families.
