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[title] => Busy atmosphere at the annual Science Conference HASAM2022
[description] => On December 11, 2022, the annual scientific conference HASAM2022 took place with great success with the participation of more than 250 experts and health workers in the field of assisted reproduction.
[content] => With the theme "Updating scientific and technical advances, improving efficiency in infertility treatment", the seminar created an opportunity to exchange information and knowledge among leading experts in the field of Assisted Reproductive Medicine. The delegates listened to experiences, shared and exchanged knowledge between centers and hospitals; As well as updating the latest scientific and technical advances, contributing to improving the effectiveness of infertility treatment.
The conference attracted many delegates from major hospitals across the country, as well as some prominent international reporters such as:
- Prof. Sean O'Leary, The University of Adelaide, Australia
- Prof. Stefan Director, Center of Reproductive Medicine and Andrology, University Hospital Münster, Germany
- Prof. Dr. Nguyen Dinh Tao - Chairman of HTSS
- Assoc. Prof. Dr. Nguyen Xuan Hoi - PSTW Hospital
- Assoc. Prof. Dr. Trinh The Son - General Secretary of the HTSS, Director of the Institute of Embryology LSQD
Besides, in the seminar, the latest methods of treatment and support for infertility in reproduction were exchanged and shared through typical attractive reports such as:
- "The latest advances in assisted reproductive technology; an Australian perspective" - Prof. Sean O'Leary, The University of Adelaide, Australia
• "New approach in controlled ovarian stimulation - progestin-primed ovarian stimulation for IVF" - Prof. Dr. Nguyen Dinh Tao - President of HTSS
• "Reducing pregnancy complications after assisted reproduction" - Assoc. Prof. Dr. Nguyen Xuan Hoi - PSTW
• "ERA test on patients with failed implantation many times: From scientific basis to practice" - Dr. CCII. Ly Thai Loc - Hung Vuong Obstetrics and Gynecology Hospital
• "Evaluation of embryo genetics by cell free DNA PGT test in IVF" - MSc Nguyen Ngoc Quynh, Tam Anh General Hospital, HCMC
• "Using percutaneous testosterone on subjects with poor ovarian response: from research to clinical application" - Assoc. Prof. Dr. Trinh The Son, General Secretary of HTSS Association, Director of LSQD Institute of Embryology
• "Genetic and genetic factors in male/female infertility" by Dr. Presented by Pham Dinh Minh
The studies and reports are divided into different sessions in accordance with the information that doctors and nurses are interested in, especially with discussion and sharing sections on cases, clinical situations in the industry and presenting information. provide a solution to edema in the treatment of rare infertility.
GENTIS is very honored to be accompanied and sponsored by this year's HASAM Annual Scientific Conference 2022. At the conference, GENTIS shared with many doctors and nurses about the latest testing services with many outstanding advantages. Like the QUICK NIPT non-invasive prenatal screening test, the PGT MAX 1 high-resolution test can detect additional microdeletions as small as 2Mb (associated with 2 dangerous syndromes DiGeorge and 1p36),....
Through the conference, GENTIS believes that experts and doctors have been updated with the latest information on domestic and foreign testing technologies, methods and services. GENTIS will always strive to develop and bring the most advanced and safest testing solutions for the purpose of improving the physical and mental health of Vietnamese people.
Once again, GENTIS would like to congratulate the conference on being a great success and bringing useful knowledge to doctors and nurses across the country.
In two days from December 6-7, the Vietnam Association of Obstetricians and Gynecologists successfully organized the 2022 National Congress of Obstetrics and Gynecology in both face-to-face and online form with online 3D virtual reality technology, which helped the delegates to have You can follow the conference from all over the country.
The conference consisted of 1 plenary session, 7 thematic sessions and 1 satellite conference with many domestic and foreign professional updates.
This is an annual event of the Vietnam Association of Obstetricians and Gynecologists, attracting many domestic and international experts to exchange and share clinical and subclinical experiences as well as update new knowledge in the field of obstetrics and gynecology. gynecology, neonatology and assisted reproduction.
The conference was attended by Deputy Minister of Health Do Xuan Tuyen; Former Minister of Health Nguyen Quoc Trieu and more than 1,000 delegates are experts from international organizations on Obstetrics and Gynecology such as Asian and Oceania Association of Obstetricians and Gynecologists (AOFOG), French Society of Obstetricians and Gynecologists. (CNGOF), research institutes, NGOs; scientists, researchers, experts in the field of maternal and newborn health from medical facilities, universities, and hospitals specializing in obstetrics and gynecology, obstetrics and gynecology... on country.
Speaking at the opening of the conference, Professor, Dr. Nguyen Viet Tien, President of the Vietnam Association of Obstetricians and Gynecologists emphasized that, over the past time, the Vietnam Association of Obstetricians and Gynecologists has made constant efforts in connecting and spreading knowledge, Update clinical guidelines in the field of obstetrics and gynecology such as Cervical Cancer, Endometriosis, Prenatal Screening..., and cooperate with relevant associations to organize professional activities. .
Through 34 general and topical scientific reports, extensive knowledge on Obstetrics, Reproductive Support, Vaccines, Gynecological Cancer, Cervical Cancer, Genetics... Update to all delegates
The reports are divided into different sessions in accordance with the information that doctors and nurses are interested in, especially with discussion sections, sharing about cases, clinical situations in the industry and offering solutions. help address treatment in the field of sex medicine and reproductive health.
At this year's conference, GENTIS is honored to be accompanied by providing information, research and data reports on NIPT testing in the management of multiple pregnancies.
In the report of Ths.BS Nguyen Viet Quang (Director of the National Center for Reproductive Support - National Hospital of Obstetrics and Gynecology) on the significance of NIPT test in the management of multiple pregnancies, Dr. Quang emphasized the need. when performing the NIPT Prenatal Screening test for pregnant women with multiples, especially common birth defects such as Down syndrome, Edwards, Patau... According to doctors, NIPT should be the first test for with women with multiple pregnancies.
The director of the National Center for Assisted Reproductive Medicine also said that one of the important factors determining the accuracy and effectiveness of the NIPT test with multiple pregnancies is the test technology and equipment system.
Dr. Quang pointed out studies in the world to compare the accuracy and failure rate of some technologies, and concluded that Illumina's NIPT test (USA) is nearly effective. As best, limit the proportion of samples that must be collected.
As the unit implementing NIPT test in multiple pregnancy, GENTIS is proud to be the first unit to provide NIPT non-invasive prenatal screening tests for multiple pregnancy with modern technology, advanced techniques and prevention system Tests meet ISO standards.
Through the conference, we hope that GENTIS has contributed to providing some useful information about the NIPT test in particular as well as other tests in the field of obstetrics and gynecology, assisted reproduction for doctors and experts.
GENTIS will always develop and update the best and most advanced testing services and packages to customers and partners for the purpose of improving the physical and intellectual development of Vietnamese people.
Once again, GENTIS would like to congratulate the conference on being a great success and bringing useful knowledge to doctors and nurses across the country.
After 43 years of development in the world and 23 years of development in Vietnam, the Reproductive Support industry plays an increasingly important role and has achieved remarkable success in supporting infertile couples to have a association of being a parent. However, along with many great scientific advances, the success rate of many couples has not reached the desired level.
Vietnam is one of the countries with a strong growth rate in terms of quantity and quality of infertility treatment. In order to improve the quality of treatment, scientists constantly update their knowledge, scientific and technical advances and continue to share experiences in IVF.
Hanoi Fertility Support Association organized the third annual scientific conference with the theme "Updating scientific and technical advances, improving effectiveness in infertility treatment".
This is a particularly attractive seminar with the gathering of the best quality reports from internationally renowned experts (Germany, Australia, Singapore...), as well as experienced domestic experts.
Information about the Conference:
Time to take place: 10-11/12/2022.
Number of attendees: 250 people
Delegates: Executive Board of Hanoi Reproductive Support Association, embryologists/Labor/Clinical doctors, leaders of leading Reproductive Support Centers in the North, Central and South regions. Foreign HTSS experts.
Location: Meliá Hanoi Hotel, 44 Ly Thuong Kiet, Hoan Kiem, City. Hanoi
Main content:
Participating in this year's conference, GENTIS promises to bring doctors and specialists a complete set of the latest testing techniques for clinical application in disease diagnosis and treatment. GENTIS would like to wish the Conference a great success. Let's update more information about the Conference at GENTIS Website and Fanpage!
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For every family, children are priceless gifts, the crystallization of happiness. The seemingly simple wish of a small family full of children's laughter for infertile couples is a long journey with many hardships. Especially, for military families, these difficulties seem to multiply when they often go on business trips away from home to serve the people and protect the Fatherland.
Therefore, on December 3, Hanoi Hospital for Andrology and Infertility cooperated with the Military Radio and Television Center to organize a Gala "Seeds of Aspiration" with the theme "Supporting soldiers who are infertile". - Spread love. This is a cultural and artistic program that tells the emotional story of barren soldiers, about the painful and hard journey to find a child.
During the program, the audience heard the confidants, stories, cries, laughter, mixed joys and sorrows of military couples when the dream of having children seemed to be extinguished. but lit up by the light of hope from the "Seed of Desire". 10 100% free in vitro fertilization cases have been announced and given to 10 infertile military families with the most difficult and disadvantaged circumstances. Tears of happiness rolled down her cheeks when she was held in the arms of little angels after 9 years, 10 years of waiting, these wonderful emotions were flooded on the Gala night "Seeds of Desire".
GENTIS is very honored and proud to be able to contribute, share, open up the same concerns, with a burning desire to be called the two-language darling of military families. GENTIS would like to wish all the medical staff and hospital staff a lot of health to help many infertile couples achieve more dreams, joy and happiness.
Thank you to Hanoi Hospital for Male Studies and Infertility and the Military Radio and Television Center for organizing a special art program, a Gala night full of meaningful happiness and love.
The expanded scientific conference of Nghe An Obstetrics - Pediatrics in 2022 co-organized by Nghe An Department of Health and Nghe An Obstetrics and Children's Hospital will take place on December 10, 2022. The conference attracted the attention and attendance of more than 500 guests across the country, promising to have many special things in terms of professional content and organization.
Accordingly, the Conference was organized for the purpose of strengthening and further promoting the role of Obstetrics and Gynecology and Pediatrics majors in the care and protection of people's health; timely update of scientific and technical advances, new applications in expertise. At the same time, it is an opportunity to exchange and share information from leading experts and colleagues in Obstetrics - Pediatrics working at Obstetrics & Gynecology Hospitals / Obstetrics & Gynecology Hospitals / Children's Hospitals across the country.
Guests and participants of the Conference are experts working in the field of health, medical examination and treatment throughout the country; especially the presence of experts from the Ministry of Health and leading specialized hospitals such as: National Hospital of Pediatrics, National Hospital of Obstetrics and Gynecology, Children's Hospital 1, Children's Hospital 2, Tu Du Hospital... as well as specialists in pharmacy, medical supplies, science and technology, social management...
The upcoming conference will have a variety of professional reports, including: Obstetrics, gynecology, and pediatric surgery; anesthesia resuscitation; Heart; Respiratory; resuscitation; Infectious; infection control; image analysation; functional exploration; Traditional medicine, rehabilitation; testing, pathology; Nursing and taking care of patients; Hospital quality management; Information technology…
With more than 500 experts, doctors and medical staff expected to attend live and online, the conference will update the latest knowledge and experiences through 01 plenary session, 12 thematic sessions with a total of 28 report.
Information about the Conference:
1. Location: Lobby 6, 2nd Floor, Diamond Palace – Giao Giao Hotel (No. 6, Ho Tung Mau Street, Vinh City, Nghe An)
2. Time: 08h00, Saturday, December 10, 2022.
3. Main content:
- Opening conference
- Scientific report plenary session (4 papers)
- Thematic scientific reports: (24 papers)
+ Internal Medicine
+ Foreign Children
+ Maternity HT
+ HT Surgery
At this scientific conference, GENTIS promises to bring to doctors and experts the latest updated techniques of obstetrics and gynecology and reproductive support in the world for clinical application in diagnosis and treatment. cure. With the field of Obstetrics and Gynecology and Pediatrics, GENTIS is confident to bring meaningful products and attractive cooperation programs and gifts to the participants.
Once again, GENTIS would like to wish the Conference a great success. Let's update more information about the Conference at GENTIS Website and Fanpage or on website, fanpage of Nghe An Obstetrics and Children Hospital, Portal of Nghe An Department of Health.
The 2022 National Congress of Obstetrics and Gynecology is an important event hosted by the Vietnam Association of Obstetricians and Gynecologists (VAGO) with the goal of developing professional capacity and scientific research for its members. The conference is also a place for members of the Vietnam Association of Obstetricians and Gynecologists and colleagues to exchange and share experiences in obstetrics and gynecology practice, update clinical guidelines and scientific research reports in the field of obstetrics and gynecology. gynecology in the world and in Vietnam.
Following the success of the previous congress, the National Congress of Obstetrics and Gynecology and Obstetrics and Gynecology in 2022 has the presence of many well-known domestic and international experts to exchange and share experiences on clinical and paramedical clinical practice as well as updating new knowledge in the field of obstetrics and gynecology, neonatology, and assisted reproduction. The conference is organized in the form of HYBRID (virtual reality) to help members from all over the country connect. Not only limited to official members, the conference is open to all colleagues, doctors, pharmacists, scientists working in the field of Obstetrics and Gynecology.
In addition, the Conference was honored to welcome and build a symposium for the Board of Directors of the Asia and Oceania Association of Obstetricians and Gynecologists (AOFOG) chaired by Prof. Pisake Lumbiganon. Choosing Vietnam as the first destination during his tenure, Prof. Pisake Lumbiganon wants to seek opportunities for bilateral cooperation between the two associations in the future and consider making Vietnam the host country of AOFOG's conference. in the year 2023.
With more than 500 experts, doctors, medical staff expected to attend live and online, the conference will update the latest knowledge and experiences through 01 plenary session, 07 thematic sessions and 01 conference satellite conference.
Information about the Conference:
1. Time: 06 - 07 December 2022
2. Location: Sheraton Hanoi Hotel
3. Format: Direct combination Online
4. Main content:
• December 6th: Meeting of Executive Committee of Vietnam Association of Obstetricians and Gynecologists & Opening of the National Congress of Obstetrics and Gynecology 2022
• December 7th:
08:30-9:30: Plenary session
10:00-11:40: Morning sessions
- Session 1A: Obstetrics
- Session 2A: Gynecological Oncology - Session 3A: Assisted Reproduction
13:00-14:00: Satellite Conference
14:00-16:30: Afternoon seminars
- Session 4B: Obstetrics and vaccines
- Session 5B: Gynecology
- Session 6B: Assisted Reproduction (continued)
- Session 7B: Other issues
Participating in this year's conference, GENTIS promises to bring to doctors and experts new up-to-date obstetric and gynecological testing techniques and reproductive support in the world for clinical application in diagnosis and treatment. cure. GENTIS would like to wish the Conference a great success. Let's update more information about the Conference at GENTIS Website and Fanpage!
In recent years, the rate of infertility has continuously increased and more and more couples are choosing to use assisted reproductive technology to treat infertility [1]. One of them is the method of in vitro fertilization (IVF) with the most implementation rate. The goal of IVF is to select a good embryo for transfer to the mother's uterus and produce a clinically healthy pregnancy in the shortest possible time.
However, the incidence of chromosomal abnormalities in embryos cultured in vitro can be as high as 60% and this is strongly associated with implantation failure and high miscarriage rates [2]. Therefore, the genetic analysis test before embryo transfer, also known as PGTest (Preimplantation Genetic Testing) was born and marked a big turning point in the field of assisted reproduction. To date, the PGTest test has become a routine method to test for abnormalities related to the number, structure of chromosomes and genetic disorders of monogenic diseases in embryos worldwide.
Technology and application techniques in testing PGTest
The process of performing the PGTest test is quite complicated and requires a team of highly qualified personnel with modern facilities and equipment. Since its inception, the PGTest test has always been updated and optimized in technology to improve screening efficiency. Up to now, with the development of science and technology, many technologies have been developed and used for genetic analysis before embryo transfer such as:
• Fluorescence in situ hydridization (FISH) technique
• Microarray comparative genomic hybridization (aCGH)
• Next generation sequencing (NGS) technology.
Each method has its own advantages and disadvantages, so which method for genetic analysis before embryo transfer has the highest accuracy and the most reasonable cost?
1. FISH - Fluorescence in situ hydridization
In 1995, fluorescence in situ hydridization (FISH) was first applied and considered the main method for genetic analysis before embryo transfer [4].
FISH is a technique of hybridization of fluorescent probes (DNA sequences) with fluorescent target DNA on chromosomes in the form of dividing (metaphase) or non-dividing (interphase) cells. Going through the steps of fixation, denaturation, and hybridization with fluorescein-labeled DNA, the sample will be analyzed under a fluorescence microscope to detect abnormalities in chromosomes and related genes.
However, FISH is limited by the number of fluorescent probes, thus limiting the number of chromosomes tested. Genetic analysis before embryo transfer using FISH only allows testing on five chromosomes, 13, 18, 21, X and Y [5]. In addition, the detection of mosaicism or microdeletion/repeat mutations in embryos is still limited.
2. Microarray-based comparative genomic hybridization technique
Microarray-based comparative genomic hybridization (aCGH) was applied immediately after FISH. It is a molecular cytogenetic technique to detect genome-wide chromosomal changes with high resolution, aCGH compares a patient's genome with a reference genome and identifies differences. differentiate between the two genomes and thereby identify the region of genomic imbalance in the patient.
This technique was able to detect abnormalities on all 24 chromosomes and mosaicism in embryos, which is far superior to the previous FISH method. However, aCGH is still very limited to detect deletion/repeat mutations or syndromes related to structural abnormalities of chromosomes.
3. New Generation Gene Sequencing (NGS) Technology
This technology is considered the current standard in genetic analysis before embryo transfer. Unlike the above two methods, the NGS approach is based on the direct determination of the nucleic acid sequence of a certain DNA or cDNA molecule. NGS helps to deal with larger-scale datasets, at a much lower recurring cost.
When compared with the above two methods, the researchers showed that:
(1) FISH detection of chromosomal abnormalities is much more limited than aCGH and NGS, because FISH only detects abnormalities on five chromosomes 13, 18, 21, X and Y while aCGH and NGS can detect chromosomal abnormalities on all 24 chromosomes [6];
(2) Using next generation gene sequencing (NGS) technology improves the survival rate related to the ability to detect abnormal embryos better than FISH and aCGH technology [7].
From that, it can be seen that the application of NGS technology in genetic analysis testing before embryo transfer has improved and improved the efficiency of screening for abnormalities in embryos, helping to increase the rate of conception and birth of healthy babies. strong.
Next Generation Sequencing – NGS also has many different platforms, including: Illumina sequencing, Proton/PGM (Ion Torrent) sequencing and PacBio RS II sequencing. Each technology has its own advantages and disadvantages, studies around the world have also evaluated the effectiveness of each technology platform when applied in genetic analysis before embryo transfer. The common advantages of the new generation gene sequencing platforms are the analysis of the entire 24 chromosomes, the detection of microdeletion/duplication mutations and a number of syndromes related to structural abnormalities of chromosomes.
Because the Ion Torrent sequencing platform uses semiconductor technology, not optical technology to measure signals, the time to read and analyze results is fast, and the system is compact. But the limitation of Ion Torrent is that the read length is only about 100 - 250 bp, so at the bases behind the readability will gradually decrease and it is difficult to accurately count the continuous repeating sequence of a nucleotide. Although the machine system is compact, the implementation process is relatively complicated and includes many steps, which is also a cause of errors from many stages of the testing process [8].
As for Illumina's technology platform, the outstanding advantage is in the ability to analyze sequences of a continuously repeating nucleotide and with a read length of 36 - 600 bp, which is larger than that of Ion Torrent. In addition, llumina's technology platform is also proven to have large reading coverage, increasing the readability of the results in the most optimal way.
According to the 2020 statistics, Illumina's technology platform is now more commonly used by the world's scientific community than the Ion Torrent technology platform. However, Illumina sequencing has the disadvantage of longer data analysis time and higher cost compared to Ion Torrent technology.
PacBio RS II's technology platform is developed following Illumina's technology platform, with the advantage of large read length, about 10-15 kb with significantly faster result analysis time than Ion Torrent and Illumina. However, PacBio RS II sequencing has a low throughput, PacBio RS II reads are only about 50,000 per run, so the error rate is still high, and the test cost is also higher. compared to the two platforms Ion Torrent and Illumina [9]
With new generation gene sequencing (NGS) technology platforms, outstanding advantages are in depth and resolution, the ability to screen and detect abnormalities with high accuracy. In particular, Illumina's technology platform is considered a trend with the advantages of deeper coverage analysis, so the accuracy is also higher, the price is reasonable, the applicability is wide, and it is considered a standard in genetic analysis before embryo transfer.
Technological foundation of PGTest testing at GENTIS
The technology platform used in this assay is Illumina sequencing on the MiSeq system - Illumina, USA, and the analysis software BlueFuse Multi has been shown to have a sensitivity and specificity of up to 99%. With the advantages of the Illumina technology platform such as: the ability to analyze deep coverage, read consecutive repeat sequences of a nucleotide, the PGTesst test at GENTIS helps to increase the rate of selecting high-quality embryos for testing. transferred to the mother's uterus, thereby increasing the rate of successful clinical pregnancy when performing in vitro fertilization (IVF).
GENTIS is offering 3 pre-transfer genetic testing packages PGT-A, PGT-SR and PGT-M to help select embryos without chromosomal abnormalities, supporting pre-optimized embryo selection. when transferred into the mother's uterus. In addition, GENTIS also launched the PGT Max 1 test package - a breakthrough test from PGTest, exclusively improved with outstanding advantages that no other unit in Vietnam has been able to perform.
The special feature of this test is that in addition to detecting quantitative and structural abnormalities on all 24 chromosomes and common syndromes caused by mutations >5Mb in size, PGT Max 1 can also detected 2 more common microdeletion abnormalities with small size of only 2Mb including 22q11.2 deletion (associated with DiGeorge syndrome) and 1p36 deletion (associated with 1p36 deletion syndrome).
At GENTIS, we are constantly trying to improve service quality, applying the most modern and advanced testing technologies and techniques to bring customers the most comprehensive solutions, contributing to improving the quality of services. effective care and protection of human health.
References:
[1] Vander Borght M., Wyns C. Fertility and infertility: definition and epidemiology. ClinicalBiochemistry . 2018;62:2–10. doi: 10.1016/j.clinbiochem.2018.03.012.
[2] Franasiak J. M., Forman E. J., Hong K. H., et al. The nature of aneuploidy with increasing age of the female partner: a review of 15,169 consecutive trophectoderm biopsies evaluated with comprehensive chromosomal screening. Fertility and Sterility . 2014;101(3):656–663. doi: 10.1016/j.fertnstert.2013.11.004.
[3] Handyside, A H et al. “Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification.” Nature vol. 344,6268 (1990): 768-70. doi:10.1038/344768a0
[4] Griffin D.K., Ogur C. Chromosomal analysis in IVF: Just how useful is it? Reproduction. 2018;156:F29–F50. doi: 10.1530/REP-17-0683.
[5] Rius M., Obradors A., Daina G., Ramos L., Pujol A., Martínez-Passarell O. Detection of unbalanced chromosome segregations in preimplantation genetic diagnosis of translocations by short comparative genomic hybridization. Fertil Steril. 2011;96:134–142.
[6] Cornelisse, Simone et al. “Preimplantation genetic testing for aneuploidies (abnormal number of chromosomes) in in vitro fertilisation.” The Cochrane database of systematic reviews vol. 9,9 CD005291. 8 Sep. 2020, doi:10.1002/14651858.CD005291.pub3
[7] Bartels, Chantal B et al. “In vitro fertilization outcomes after preimplantation genetic testing for chromosomal structural rearrangements comparing fluorescence in-situ hybridization, microarray comparative genomic hybridization, and next-generation sequencing.” F&S reports vol. 1,3 249-256. 25 Sep. 2020, doi:10.1016/j.xfre.2020.09.011
[8] Lahens, Nicholas F et al. “A comparison of Illumina and Ion Torrent sequencing platforms in the context of differential gene expression.” BMC genomics vol. 18,1 602. 10 Aug. 2017, doi:10.1186/s12864-017-4011-0
[9] Rhoads, Anthony, and Kin Fai Au. “PacBio Sequencing and Its Applications.” Genomics, proteomics & bioinformatics vol. 13,5 (2015): 278-89. doi:10.1016/j.gpb.2015.08.002
PGT-M was first reported in 1990, indicating the genetic diagnosis of embryos at risk for an X-linked genetic disorder. With this technique we can examine the genome of embryos from a very early stage, from which abnormal fragments on a particular gene are inherited from the parents. From there, the embryos homozygous for the disease gene will be removed before being transferred to the mother's uterus. The effectiveness of this method has been proven to help limit the number of babies born with the disease as well as limit the need to terminate the pregnancy mid-term. [first]
PGT-M is used to help individuals or couples reduce the risk of having a child with a known genetic disorder caused by a single gene mutation such as cystic fibrosis, thalassemia, hemophilia Hemophilia, Duchenne muscular dystrophy, myelodysplasia, congenital muscular dystrophy, congenital adrenal hyperplasia,... [2]
In addition, in the future, this technique is also directed to be applied in the treatment of siblings of children who have been born but have the disease. With PGT-M, it is possible to diagnose human leukocyte antigen (HLA) matching of embryos with diseased siblings. Stem cells from umbilical cord blood of children born from embryos selected through PGT-M technique will help treat diseased siblings. [3]
Basically, to perform the PGT-M technique, couples need to have assisted reproduction by in vitro fertilization. The generated embryos will be raised to day 5. With the qualified day 5 embryos (blastocysts or blastocysts) biopsies will be performed (3-5 embryo cells are removed from the area where the cells will develop into the placenta. after that). Cell samples after biopsy will be applied special testing methods to detect disease-carrying genes
The technology used in the PGT-M test is SNP and STR analysis to detect single-gene mutations inherited from the father and mother to the embryo. Nucleotide polymorphism (SNP) microarrays detect single nucleotide pairs in genomic DNA that vary widely within a given species. An array typically evaluates about 300,000 SNPs spaced in the genome and provides one genotype per sample relative to the reference genome, thus identifying the entire chromosome aneuploidy, about 250 common structural aberrations. SNPs can also be used for molecular cytometry to detect the intensity ratio of B-to-A alleles at heterozygous loci, allowing for high-resolution deletion and duplication detection. Some limitations of SNP microarrays include limited ability to detect structural abnormalities below 5 MB, inability to detect balanced chromosomal rearrangements, and genetic abnormalities in a single pair. Linked spouses may not be detected because the SNP may be homozygous at each site. [4]
The PGT-M test is indicated in cases where there is a history of a spouse carrying the disease gene, or a family member with a genetic disease caused by a genetic mutation such as a recessive monogenic disease (eg, celiac disease). cysts), monogenic diseases (eg, Huntington's disease), sex-linked disorders (eg, Duchenne muscular dystrophy), chromosomal disorders (eg, translocations), predictor of cancer (breast cancer, cervical cancer ...) or determine HLA compatibility (to select embryos compatible with HLA antigens with a sick brother or sister requiring bone marrow transplant, blood transfusion. This person can donate bone marrow, cure your disease). For patients at risk of passing a genetic disease on to their children, PGT-M helps reduce risk, increase the likelihood of a healthy baby, and avoid ethically and emotionally challenging decisions. when deciding whether or not to terminate a pregnancy if a pregnancy has a genetic abnormality.
In clinical practice, the PGT-M test is often combined with performing the PGT-A/SR test before performing the PGT-M test to help comprehensively assess embryo quality and improve the success rate of assisted reproductive methods. Patients with monogenic disorders are mainly young patients and have a good prognosis, they still have a high risk of spontaneous abortion. In recent years, many studies have reported that when embryos are combined with PGT-A and PGT-M screening, pregnancy rates can be increased from 45% to 68% and spontaneous abortion rates decreased from 15 % down to 5%. [5]
Furthermore, the inclusion of PGT-A screening is appropriate for the majority of women undergoing IVF. All women are at risk of creating embryos with chromosomal abnormalities (trisomy 13, 18, 21, monosomy 23); As maternal age increases, the chance of embryos with chromosomal abnormalities increases. However, PGT-A can help women of all ages increase their chances of successful fertilization and embryo transfer. Chromosomal rearrangements (or chromosomal disorders) are mutations, deletions, duplications, inversions, and translocations of chromosome segments. People with chromosomal rearrangements are at risk of creating embryos with incorrect levels and sequences of genetic material, which often do not lead to successful conception. This phenomenon may be inherited or may occur spontaneously. Many people with balanced chromosomal rearrangements (segments, translocations) can remain healthy and unaware of their condition until they try to have children. For those with chromosomal rearrangements, PGT-SR may be performed to improve the chances of a healthy pregnancy. [6]
References:
[1] De Rycke, M., & Berckmoes, V. (2020). Preimplantation Genetic Testing for Monogenic Disorders. Genes, 11(8), 871. https://doi.org/10.3390/genes11080871
[2] Sullivan-Pyke, C., & Dokras, A. (2018). Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis. Obstetrics and gynecology clinics of North America, 45(1), 113–125. https://doi.org/10.1016/j.ogc.2017.10.009
[3] Kakourou G., Kahraman S., Ekmekci G.C., Tac H.A., Kourlaba G., Kourkouni E., Sanz A.C., Martin J., Malmgren H., Giménez C., et al. The clinical utility of PGD with HLA matching: A collaborative multi-centre ESHRE study. Hum. Reprod. 2018;33:520–530. doi: 10.1093/humrep/dex384
[4] Sullivan-Pyke, C., & Dokras, A. (2018). Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis. Obstetrics and Gynecology Clinics of North America, 45(1), 113–125. doi:10.1016/j.ogc.2017.10.009
[5] Unsal, E., Aktuna, S., Aydin, M., Ozer, L., & Baltacı, V. (2019). 69. IMPROVED IVF SUCCESS OF COMBINED PGT-M AND PGT-A APPLICATIONS. Reproductive BioMedicine Online, 39, e69-e70. https://doi.org/10.1016/j.rbmo.2019.04.122
[6] Sciorio, R., Tramontano, L., & Catt, J. (2020). Preimplantation genetic diagnosis (PGD) and genetic testing for aneuploidy (PGT-A): status and future challenges. Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology, 36(1), 6–11. https://doi.org/10.1080/09513590.2019.1641194
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Busy atmosphere at the annual Science Conference HASAM2022
National Congress of Obstetrics and Gynecology 2022 to update clinical progress for doctors nationwide
GENTIS participates in the annual scientific conference HASAM2022
GENTIS accompanies the Gala “Seeds of Aspiration” to sponsor 10 IVF cases
GENTIS sponsors at Scientific Conference 2022 - Nghe An Obstetrics and Pediatrics Hospital
GENTIS attended the National Congress of Obstetrics and Gynecology - Vietnam Association of Obstetricians and Gynecologists VAGO 2022
Technology and application techniques in testing PGTest
Application of PGT-M test in preimplantation embryo screening
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