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The newborn variant (dnv) is a genetic mutation that was previously unrecognizable in the family history of one of the two potential parents and could cause illness in any children they give birth
.
In the case of a parent with disease-causing DNV, the risk of passing it to their children can be as high as 50%, and the ability to identify healthy embryos for transfer to avoid affected pregnancy is obviously a priority
Dr.
Eftychia Dimitriadou, the head of the Reproductive Genetics Department of the Human Genetics Center at Leuven University Hospital in Belgium, and his colleagues recruited 22 couples, one of whom carried the DNV mutation that causes Mendelian disease
.
Mendelian disease is usually (but not always) caused by changes in a single gene
The researchers decided to try to simplify this process using Long Read Sequencing (LRS), a technique that can read the sequence of very long DNA fragments
.
The main advantage of LRS is that it more accurately detects copy number mutations, deleted or replicated DNA fragments, and single nucleotide variations (SNVs), for example, changing the sequence of a single DNA molecule, especially in regions that are the same DNA fragments are repeated
Dr.
Dimitriadou said: "This allows us to determine whether the mutation that causes the disease is located in the maternal or paternal line of the affected chromosome of dnv patients
.
" Embryos-all of this is carried out in a single workflow
In addition to detecting dominant genetic diseases (one copy of a disease-related mutation is enough to cause the disease), the test can also detect embryos with an abnormal number of chromosomes throughout the genome (aneuploidy)
.
However, a comprehensive test does not mean that every single genetic abnormality can be detected
This new test has only recently begun clinical application, but in the 23 in vitro fertilization/PGT cycles that have been performed, 15 embryos have no mutations, no detectable genome-wide genetic abnormalities, and are of sufficient quality for transplantation
.
Six people became pregnant and three babies were born
"Because children born with genetic diseases often have serious physical manifestations, it is understandable that parents often worry about the risk of their children suffering from genetic diseases, such as neurofibromatosis 1 or Alport syndrome 2.
For parents Said that the discovery of one of them with this disease has already brought them a huge emotional burden, so we are proud to bring new hope to the affected families.
"However, there is a dark cloud on the horizon
.
The EU In Vitro Device Regulation (IVDR), which will take effect in May 2022, may ban our hospitals from "independently developed" new innovative tests
Professor Alexander Raymond, chair of the ESHG conference and director of the Center for Integrated Genomics at the University of Lausanne, Switzerland, said: "The original goal of reproductive medicine was to allow infertile couples to have children
.
In the 43 years since the birth of the first IVF, rapid progress has been made.
It has brought many advancements, including prenatal diagnosis
.
Now, through long-read sequencing, it has taken another step forward, helping families with “gene at risk” hope to have unaffected offspring
.
