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Updating new knowledge on genetic analysis and testing services is a cross-cutting activity of GENTIS in the process of supporting partners and customers to deploy the service effectively. Accordingly, GENTIS held a presentation seminar on the topic "Pre-embryo Transfer Genetic Screening (PGT)" at Quang Ninh Obstetrics and Children's Hospital on February 28.
The seminar was attended by nearly 15 doctors and nurses from the hospital leadership, reproductive support department and laboratories. Especially, there were the presence of Deputy Director of the hospital Dr. CKII Do Duy Long, Head of IVF lab Dr. Vu Thu Hang, Head of genetics lab Dr. Ngo Kim Ngan and Head of Nursing Department of HTSS Dr. Nguyen Thi Lien and other techniques staff working in the hospital laboratory.
GENTIS Company was honored to have the participation of the Director of the Testing Center - MSc. Nguyen Quang Vinh is a direct report on PGT services and Mr. Pham Cao Khai - GENTIS test team leader helps guide how to store and send PGT samples from the hospital.
At the beginning of the report, Director Nguyen Quang Vinh shared preliminary about genetic analysis test before embryo transfer with 3 types: PGT-A, PGT-SR and PGT-M, in which the report focuses on data’s research practice at GENTIS. Currently, all babies are born with a probability of having an abnormal number of chromosomes (chromosome), structural abnormalities or having some genetic diseases.
Therefore, with the ability to analyze 24 chromosome number abnormalities of blastomeres and identify very small (>5mb) deletions/additions, the PGT test will help doctors select embryos with high quality. The best, healthy amount is transferred into the mother's uterus during IVF.
Sharing more details on this topic, Master Vinh said, the rate of chromosomal abnormalities in embryos cultured in vitro can be up to 60% and this is closely related to failed implantation and miscarriage at a high rate. Based on the data collected at GENTIS, the Director of GENTIS Center presented data with the percentage of samples with 24 chromosome abnormalities accounting for 48%, the percentage of samples with no abnormalities detected at 50% and the percentage of samples with abnormality of 24 chromosomes. Unanalyzed noise accounted for 2%.
Through research, mutations occurring on many different chromosomes (except for the case of Y chromosome) in day 3 embryos are quite similar, but this rate in day 5 embryos is quite different. Usually small chromosomes have a greater rate of abnormalities (13,15,16,18,21,22). This could be explained by the fact that embryos carrying abnormally large chromosomes have a lower growth rate to day 5.
Emphasizing at the training session, Ms. Vinh focuses on the significance and application of PGT-M test - pre-embryo transfer genetic test for single-gene diseases, indicated for couples carrying genetic abnormalities.
To date, GENTIS has performed routine PGT-M testing in hospitals and detected more than 30 genetic disease syndromes. Not only common diseases such as Thalassemia, muscular atrophy, hemophilia... but other rare and dangerous genetic diseases are also performed by GENTIS experts such as Wilson's disease, Pompe syndrome, cystic fibrosis, Fabry's disease, etc. , congenital hearing loss, congenital hypothyroidism, Smith-Lemli-Opitz syndrome, vitreous bone disease, autosomal dominant polycystic kidney...
The director of GENTIS Center also shared that, in addition to the diseases on the routine list, GENTIS can perform PGT-M for most diseases and genes, including new diseases that have not yet been performed by any unit in Vietnam. In these cases, the hospital needs to provide information about the mutation to be performed, the genetic test results in the parents first, so that GENTIS can give appropriate advice.
During the training session, Master Vinh also raised the issue of the abnormal detection range in PGT-A/SR, which can only detect microdeletions/repetitions: >5 Mb (Veriseq PGS kit, illumina) , >8 Mb (Reproseq, Thermofisher) and >7 Mb (PGSeq, PerkinElmer). That's why the research and development team of GENTIS experts should test PGT MAX 1 with higher resolution, detect deletions/repetitions as small as 2Mb and find out the causes affect embryo transfer.
Some dangerous syndromes with a cumulative rate of nearly equal to Down, Edward, and Patau syndromes such as: common genetic syndromes/diseases such as deletion 22q11.2 (Digeorge syndrome), deletion 1p36 (Loss syndrome) segment 1p36), deletion 15q11.2 (Prader Willi/Angelman syndrome).
With Veriseq PGS technology and the new generation DNA sequencing system NGS of Illumina - USA deployed at GENTIS, the PGT test has:
- High resolution with more than 3,000 data points (probes) to help screen for abnormalities of all 24 chromosomes.
- Number of reads up to 1,000,000 reads/sample. Can detect loss and add fragments > 5Mb in size.
- 99.99% sensitivity; The specificity is 99.98%.
Bluefuse analysis software identifies more than 130 syndromes associated with chromosomal deletions and deletions
At the end of the seminar, GENTIS discussed with the laboratory team of Quang Ninh Obstetrics and Children's Hospital about the issues that need to be coordinated in the embryo delivery and receipt process. Doctors at the hospital had a lively discussion about how to preserve samples, collect samples, return samples, and how to access the service to be suitable for pregnant women with multiple miscarriages and couples. Husband performed in vitro fertilization.
The GENTIS test team leader noted that the Hospital should use the kits and canisters provided by GENTIS to ensure the best biopsy quality. The kit GENTIS uses ensures anti-adhesion of cells inside the tube wall, keeping the embryo transfer medium and blastomeres always at the bottom, not on the tube wall. Units that choose GENTIS's PGT service will be supported with the most suitable tools, embryo transfer environment and embryo transfer options to ensure accuracy and time to return results to customers.
Through this update and knowledge sharing session, the doctors of Quang Ninh Obstetrics and Gynecology Hospital had more useful information about genetic screening methods before embryo transfer, screening and washing procedures and embryo transfer after embryo transfer. biopsy to perform the most accurate PGT technique for the patient. To meet the needs of hospitals in general and infertile families in particular, GENTIS will always try to develop and improve more technologies to increase the chances of a healthy and safe pregnancy for people Vietnamese.
