News

News

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            [title] => GENTIS & Viet-Belg Hospital: Updating Gynecological Tests and FSH Tests to Support Ovarian Stimulation Treatment
            [description] => On April 6, the GENTIS Research and Product Management team went directly to the Vietnam Belgium Hospital for Andrology and Infertility to update the new progress information of the Gynecological Tests and the FSH Test to support the treatment of women ovarian stimulation.
            [content] => 

On the afternoon of April 6, GENTIS company held a conference to report on the topic "Update new information on male testing and FSH test to support ovarian stimulation treatment" at the Hospital of Andrology. Infertility Vietnam Belgium.

The seminar had the participation of more than 20 doctors and nurses from the leadership, department heads, doctors and nurses working at the Hospital, especially in the presence of Dr. BS. Le Thi Hieu - Deputy Director of the Hospital, Dr. Ha Ngoc Manh - Deputy Director of the Hospital, cum Head of the Department of Andrology.

At the exchange, BSNT. Nguyen Thi Huyen - GENTIS geneticist gave a detailed report on current gynecological tests and the latest updates at GENTIS for the Hospital side.

Through the report, the hospital's doctors had a better overview of the test indications for male patients to contribute to determining the cause of infertility, diagnosing and treating male infertility effectively. Some tests are still used for male gynecology such as: Semen map, Karyotype, AZF, sperm DNA fragmentation, CFTR... have been performed by Viet Belgium Hospital.

In addition, the GENTIS geneticist also pointed out the improvements, superiority and high quality in male testing at GENTIS that will optimally support doctors in male infertility treatment regimens.

In addition to the report on the laboratory tests, Dr. Nguyen Van Quang - GENTIS Product Manager shared about the FSH receptor gene polymorphism test, a new test developed by GENTIS to assist doctors in the process. ovarian stimulation.

The FSH receptor gene polymorphism test is a test that allows the identification of genetic variants associated with the response to ovarian stimulation. With this test, the doctor will come up with an optimal and personalized ovarian stimulation regimen for each patient. Also aids in determining the cause of poor ovarian response (POR) or in the evaluation of high-risk cases of ovarian hyperstimulation.
According to Drs. Quang, GENTIS is the first unit in the North to deploy FSH receptor gene polymorphism test and perform on 4 SNPs proven to be associated with poor ovarian response (rs6165, rs6166, rs1394205, rs10835638) .

GENTIS' FSH test report attracted the attention of many doctors at the conference. Doctor Ha Ngoc Manh (Deputy Director of the Hospital) questioned the FSH test with the recommendations for the use of drugs after the FSH test for patients with poor response to ovarian stimulation and the studies clinical research in Vietnam. This is also the goal GENTIS is conducting research on this test in Vietnam for the poor responder group to have the best comparison for doctors when ordering the test.

BS. Le Thi Hieu (Deputy Director of the Hospital) is also very interested in this test and hopes that GENTIS will research and provide the closest indication thresholds, in order to support doctors in ovarian stimulation treatment regimens. Dr. Hieu said that in the coming time, Viet Belgium Hospital will also offer plans to support GENTIS in research on FSH testing.

After the discussion, GENTIS and the Vietnam - Belgium Hospital of Andrology & Infertility have come up with many useful cooperation proposals to apply high-tech tests in clinical practice, helping infertility treatment cases more effective to saving time and costs.
Once again, congratulations on the successful seminar and will continue to deploy more useful exchanges to hospitals across the country.

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Following the success of a series of seminars organized by the Hanoi Society for Assisted Reproductive Medicine (HTSS), this ART Advance 08 knowledge exchange forum with the theme "The Art of Trait-Based Assisted Reproductive Therapy" patients” has attracted more than 250 leading experts and medical staff in the field of assisted reproductive technology. Under the chairmanship and management of Prof. TS.BS Nguyen Dinh Tao - Chairman of Hanoi HTSS Association, the workshop took place with 2 working sessions and 8 papers presented and discussed by experts. leading healthcare provider in the field of assisted reproduction and genetic testing in Vietnam.

In the morning session at the Workshop, Assoc. Prof. Dr. Nguyen Thanh Tung shared on the topic "Combining culture genetic analysis and embryo morphology in screening and evaluating embryo quality". Associate Professor Tung said that there are currently many studies proving the scientific and clinical basis of genetic screening tests before embryo transfer based on the embryo culture environment.

The assay for analyzing embryo culture is under intense research and development, providing an additional basis for genetic screening for embryos. The process of culturing and collecting culture samples for niPGT-A test plays a very important role, greatly affecting the test results, especially the removal of cells of maternal origin. Currently, GENTIS is the only pioneer in providing analytical testing of embryo culture medium (ASEM Test) with outstanding advantages such as:
• Provide information on chromosomal genetic status through analysis of embryo culture environment, combined with embryo morphological assessment to select transfer/storage embryos.
• Limiting invasive manipulations to the embryo helps to reduce concerns about the effect of biopsy on the embryo.

Next, Assoc. Prof. TS.BS Ho Sy Hung also had a report on "Mosaic embryo transfer: Updated guidelines and treatment". Associate Professor Ho Sy Hung shared: “The results of the mosaic embryos are part of the PGT-A results. According to the International Consortium for Preimplantation Genetic Diagnosis (PGDIS) 2021, embryos with high mosaicism may have an increased risk of adverse clinical outcomes compared with embryos with low mosaicism (limited data)

If the two embryos have similar mosaicism, then we will consider embryo selection based on embryo morphology, then consider the type of abnormality (preference is given to embryos with total chromosomal mosaicism, then partial chromosomal abnormalities, then partial chromosomal mosaicism)
In summary, mosaic embryo transfer has less effective clinical outcomes than haploid embryo transfer. We will always prioritize haploid embryo transfer and consider mosaic embryo transfer when there are no or no more normal embryos to transfer. If we have to decide to transfer mosaic embryos, we will choose embryos to transfer according to the following parameters: Embryos with low mosaicism, mosaic chromosomes (as recommended) and mosaic type.

PGT-A is one of the preimplantation genetic tests to help detect aneuploidy of 24 pairs of chromosomes and abnormality of chromosome structure at GENTIS, in case when the patient chooses to perform mosaic embryo transfer, the patient will be fully consulted by clinical geneticists regarding PGT-A results and possible clinical outcomes. The decision to transfer mosaic embryos will be made after careful consideration of the benefits, risks, and alternatives.

In addition, there is a report by Assoc. Prof. TS.BS Nguyen Quang on "Expanding the audience using the Sperm fragmentation test". Sperm fragmentation (PMTT) is damage to one or both strands of the DNA molecule in sperm, causing the DNA strand to split or break into small pieces. When the genetic integrity of sperm is affected, it results in effects on male fertility and is greatly related to reproductive planning.

SPossessing a complete set of tests in the field of male, GENTIS sperm fragmentation test uses SCSA method (the method is considered the gold standard in sperm DNA fragmentation assessment with high accuracy, process simple implementation, quick response time) direct quantification of sperm DNA fragmentation through Flow cytometry based on dye discoloration. It can be said that PMTT test is a very important test in determining the degree of sperm DNA fragmentation to find the cause of male infertility.


At the end of the morning session, Dr. Pham Dinh Minh - R&D Director of GENTIS Company had a detailed presentation through the report "Some new advances in PGT preimplantation genetic testing by new generation gene sequencing technology "NGS".

TThe afternoon session opened with the report "The role of FSH receptor gene analysis in the individualization of the stimulation dDr. Minh said: “Currently, GENTIS Company has had new approaches and breakthroughs in the treatment of infertility through the latest tests such as PGT MAX 1 test (high resolution PGT test, with outstanding advantages can detect additional microdeletions as small as 2Mb, associated with dangerous syndromes such as 1p36 and DiGeorge); One PGT-M test (is a PGT-M test combined with a PGT-A test, developed for common single-cell recessive diseases. The One PGT-M test uses 300-500 markers. SNP for linkage genetic analysis,...)".

Prof. TS.BS Nguyen Xuan Hoi, which received much attention and appreciation from many people. PGS Hoi said that FSH receptor gene polymorphism test combined with other indicators (AMH, AFC, maternal age ...) is very helpful for doctors to personalize the ovulation regimen.

At GENTIS, testing for FSH receptor gene polymorphisms on 4 SNPs that have been shown to be associated with poor ovarian response is rs6165, rs6166, rs1394205, rs10835638. With only 2-3ml of whole blood sample stored in EDTA anticoagulant tube, using Sanger and NGS sequencing techniques on Miseq/Nextseq sequencer system and capillary electrophoresis machine, receptor gene polymorphism test GENTIS FSH will help the physician to come up with the most optimal and personalized ovarian stimulation regimen for each patient, helping to find the cause of poor ovarian response (POR). In the future, GENTIS will continue to research and optimize the gene polymorphisms related to ovarian hyperstimulation.

The seminar was lively, many questions were raised and discussed in the discussion section to help doctors gather more knowledge, get closer to methods as well as new perspectives on treatment. infertility in the world.

In addition to the reports within the conference framework, at the product display booth, GENTIS also had many other interesting gameshow activities with countless attractive gifts awarded. Here, doctors and specialists will be introduced to the latest testing services and consult the book "Male Infertility under the lens of genetics" compiled and published exclusively by GENTIS.

 

At the end of the seminar, Prof. TS.BS Nguyen Dinh Tao thanked the sponsors for accompanying the program and delegates from all over the country who attended the ART Advanced 08 scientific forum. Prof. TS.BS Nguyen Dinh Tao said that individualization of treatment is the use of treatment measures suitable to the pathological characteristics of each individual patient, the personalized strategy of treatment should be the standard clinical practice in assisted reproduction. That is, based on the "genomic map" of each person, we will use complex and delicate diagnoses to come up with an accurate treatment plan, suitable for each person's genetic characteristics, towards more effective treatment with fewer side effects. Therefore, individualizing the treatment to maximize the chances of success is essential and important!

GENTIS will also always strive to develop to bring the most advanced and safest testing technical solutions for the purpose of improving the physical and intellectual capacity of Vietnamese people. Once again, GENTIS would like to congratulate the ART Advanced Science Forum 08 on a great success and bringing useful knowledge to doctors and nurses across the country.

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After 44 years of development in the world and 24 years of development in Vietnam, the Assisted Reproductive Industry plays an increasingly important role and has achieved remarkable successes in supporting infertile couples to have a association of being a parent. However, despite great scientific advances, the success rate of many couples is still not as desired.

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 have constantly updated knowledge, scientific and technical advances and continued to share experiences in IVF.

Following the success of 2022, the Hanoi Society for Assisted Reproductive Medicine will organize the ART Advanced 08 Knowledge Exchange Forum with the theme "Art of assisted reproductive treatment based on patient characteristics".

This is a particularly attractive seminar with the gathering of the best quality reports from experienced domestic and foreign experts.

Information about the Conference:
Time to take place: April 1, 2023.
Number of attendees: expected 200 delegates
Delegates: Executive Board of Hanoi Fertility Support Association, Head of Lab, clinicians, embryologists and leaders of leading Reproductive Support Centers in 3 North, Central and South regions.
Location: Meliá Hanoi Hotel, 44 Ly Thuong Kiet, Hoan Kiem, City. Hanoi

Main content:

Participating in this year's Forum, GENTIS promises to bring doctors and experts a complete set of the latest testing techniques for clinical application in diagnosis and assisted reproductive treatment based on disease characteristics. core. 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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PGT testing can be divided into 3 groups according to specific purposes when genetic testing of embryos as follows:

+ PGT-A (Preimplantation Genetic Screening for Aneuploidy): Pre-implantation genetic testing helps to detect abnormalities in the chromosome number of embryos before transferring into the mother's uterus.

+ PGT-SR (Preimplantation genetic testing for structural chromosomal rearrangements): Pre-implantation genetic testing helps to detect structural chromosomal abnormalities.

+ PGT-M (Preimplantation genetic testing for monogenic/single gene defects): is a pre-implantation genetic test for single-gene diseases, indicated as embryos for couples carrying known genetic abnormalities. examines and detects embryo-specific single-gene mutations. PGT-M embryos without genetic disease will be prioritized to be transferred to the mother's uterus to eliminate single-gene genetic disease for the next generation.

Previously, PGT-M was called PGD (pre-implantation genetic diagnosis) and PGT-A was called PGS (known as preimplantation genetic screening). These two tests, when combined, can greatly improve your chances of a healthy pregnancy.

What does the PGT . test mean?

The PGT provides information about the genetic health of the embryo to help fertility professionals select the best embryos, and it also helps:
• Increase your chances of getting pregnant
• Reduce the risk of miscarriage
• More confidence when transferring single embryos, avoiding health risks when having to transplant double or triple embryos.
• Reducing the number of IVF cycles needed to conceive, which can reduce the time it takes for a successful pregnancy as well as the cost of each additional IVF session.
• Increase your chances of having a healthy baby

Who is the PGT assigned to?

 

1. PGT-M:
- Husband and wife carry genetic mutations that cause diseases such as Thalassemia, Myelodystrophy, ...
- Wife carries X-linked gene mutation (Hemophilia, Duchenne/Becker muscular dystrophy...)

2. PGT-SR:
- Spouse carries abnormal chromosomal structure: balanced chromosomal translocation, chromosomal deletion or duplication...
3. PGT-A:
- Miscarriage 3 times in a row
- Older wife (≥ 36 years old)
- IVF failed multiple times (≥ 3 times)
- Husband is severely infertile (loss of AZF segment)

How is PGT done?

When a PGT test is indicated:

  • • The specialist performing the PGT will perform an embryo biopsy on day 3 (1 cell) or day 5 (5 to 10 blastocyst cells) to be sent for genetic testing.
    • Embryos after biopsy will be frozen and ensure the principle of freezing 1 embryo / storage device.
    • The embryonic cell sample after biopsy will be sent to the genetics laboratory for analysis.
    • The couple will be consulted by the treating doctor about the usability of the embryos based on the genetic test results and are committed to keeping the results confidential.
    • Endometrial preparation, frozen embryo transfer and pregnancy testing were performed as usual.
    • The process of monitoring the pregnancy in the future still has to be done regularly under the advice of a specialist like other pregnancies.

Currently, PGT tests can be performed at some specialized hospitals or assisted reproductive centers in Vietnam, however GENTIS is one of the few pioneers, capable of performing the test. Precise and professional pre-implantation experience with the most modern advanced technical technology and a team of senior experts. Through the PGT test, GENTIS wishes to bring healthy babies and bring happiness to families across the country.

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Following the series of activities to update knowledge about genetic analysis and testing services of GENTIS, the company organized a presentation seminar on the topic " Optimization of the PGT-M assay in preimplantation genetic analysis" at Phu Tho Obstetrics and Pediatrics Hospital on March 16.

The seminar was attended by nearly 20 doctors and nurses from the leadership of the Center for Reproductive Support and Male Studies of the Hospital. In particular, there was the presence of Dr. Doctor Doan Xuan Kien - Director of Center for Reproductive Support, MSc. Dr. Nguyen Thi Mai - Deputy Director of Center for Reproductive Support and doctors, nurses and technicians working at the central laboratory. GENTIS Company is honored to have the participation of Drs. Duong Thi Phuong - GENTIS Product Management Team Leader directly reports on the latest updates on the PGT-M test.

At the beginning of the report, Pharmacist Phuong shared preliminary about genetic analysis test before embryo transfer. In which, the GENTIS Product Management Team Leader focused on reporting on PGT-M to identify monogenic genetic diseases and its applicability to infertile couples with monogenic genetic diseases.

According to world statistics, the prevalence of monogenic diseases accounts for about 3.5-5.9% of the world population (>400 million patients). Some common single-gene diseases such as Thalassemia, spinal muscular atrophy, Duchenne muscular atrophy, hemophilia, etc. have caused dangerous genetic consequences for many generations of families.

With the development of world science, the PGT-M technique was born, helping many couples with single-gene genetic diseases have a chance to have healthy children. PGT-M is a test performed on embryos, to detect inherited diseases caused by pre-defined gene mutations or with a clear family history.

GENTIS is the unit that has deployed PGT-M at many fertility centers across the country and received very good feedback on the quality of implementation. Dr. Phuong shared that the PGT-M test at GENTIS has been performed with more than 30 genetic disease syndromes. Not only are common single-gene diseases detected, but other rare and dangerous genetic diseases are also performed by GENTIS experts such as Wilson's disease, Pompe syndrome, cystic fibrosis, Fabry disease, congenital hearing loss. , congenital hypothyroidism, Smith-Lemli-Opitz syndrome, vitreous bone disease, inherited polycystic kidney ...

From there, Dr. Duong Thi Phuong emphasized the information that GENTIS successfully optimized the PGT-M test kit including 10 dangerous single-gene diseases, helping to shorten the time to return results from 60 days to only 30 days.

The procedure for performing this test consists of collecting a biopsy embryo or WGA product, along with a reference blood sample from the parents. In some cases, GENTIS may require a third or additional reference sample for the most accurate and clear mutation identification.

In addition to the diseases on the implementation list, the Product Management Team Leader said that GENTIS can perform PGT-M for most diseases and genes, including new diseases that have not yet been implemented in Vietnam. This is one of the great advantages that not all testing units in Vietnam can do.

Besides PGT genetic testing for embryos, parental target gene testing is also an important test for people with a history of genetic diseases or suspected monogenic diseases. Patients will receive counseling and guidance on common monogenic disease screening by GENTIS geneticists.

At that time, the patient can perform the GENTIS 13 hidden genetic disease test package to simultaneously detect mutations in genes related to 13 common genetic diseases in Asians. This is a useful tool to help each individual check whether he or she carries the disease gene or not and assess the possibility of passing the disease gene to children.

At the end of the seminar, doctors at Phu Tho Obstetrics and Pediatrics Hospital had a lively discussion with GENTIS representatives about sample preservation, sample collection as well as the process of performing PGT-M test to detect disease. Thalassemia. According to the Deputy Director of the Center - Mr. Dr. Nguyen Thi Mai, the hospital is currently accepting many patients with problems related to Thalassemia who want to have a healthy baby. The doctor also said that this disease is very dangerous and it is necessary to be screened to limit the birth of sick children and reduce the burden on the family and society.

 

After an exchange with a representative of Phu Tho Obstetrics and Gynecology Hospital, the GENTIS representative presented the effectiveness of using the PGT-M test in Thalassemia screening and applying it in more than 50 birth reproductive support centers nationwide. GENTIS is committed to implementing rigorous and ISO 9001:2015 PGT-M testing procedures to ensure accurate and reliable results in the shortest possible time.

With the desire to share knowledge about PGT technique and methods to support people with genetic diseases to have healthy children, GENTIS hopes that doctors at Phu Tho Obstetrics and Pediatrics Hospital have had more useful information to advise and consultation with the patient. The company will continue to research on PGT-M on many other rare genetic diseases, increase the success rate for pre-implantation screening and bring happiness to families in Vietnam..

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In IVF/ICSI procedures, the first and most important step is to implement a regimen of controlled ovarian stimulation (COS). Normally, in each menstrual cycle, only one follicle in the ovary develops and falls, if it meets sperm, it will fuse and form an embryo. The chance of an embryo implanting and continuing to develop is about 5 to 20%, depending on the age of the woman. The remaining follicles will degenerate, and the mature ovum will be released into the fallopian tube. Therefore, in order to increase the success rate of infertility treatment, we need to harvest more follicles. One cycle of IVF/ICSI will require 10-15 mature eggs for fertilization. [first]

So what is controlled ovarian stimulation (COS)?

 

Controlled Ovarian Stimulation (COS) is a method of in vitro fertilization (IVF) to increase the number of eggs produced during a reproductive cycle. This process involves the use of sex hormones to stimulate the growth of follicles in the ovaries, in order to achieve the optimal number of eggs for the purpose of implementing IVF/ICSI treatment. This procedure is closely monitored with ultrasound and hormone testing to ensure safety and effectiveness. COS is an important step in the IVF process, allowing infertile people to have a better chance of getting pregnant. Ovarian stimulation uses hormones that act on the reproductive endocrine axis to promote the development of ovarian follicles and increase the number of ovarian follicles obtained, thereby increasing the chances of fertilization and conception in a woman.

The goal of ovarian stimulation is to:

  • Ensure high efficiency;
    • Obtaining the optimal number of oocytes (10-15 oocytes) increases the pregnancy rate;
    • Ensure safety, reduce risks and risks;
    • Reduce the rate of OHSS, reduce the rate of cycle cancellation, reduce the rate of multiple pregnancies. [2]

Ovarian development:

- Ovarian follicles develop in two phases: the hormone-independent phase, which lasts about 3 months before the menstrual cycle, and the FSH-dependent phase, which begins at the beginning of the menstrual cycle. [3]

- Pre-antral follicles

At the beginning of the menstrual cycle, the concentration of FSH gradually increases causing a group of follicles to develop into the primary follicular stage with a size of about 200 mm and many surrounding granulosa cells. The number of receptors on the surface of granulosa cells increases to about 1500 receptors/cell. At this point, the granulosa cells initiate the production of 17 b-estradiol by aromatization of the androgen produced by the cortical cells under the influence of LH (two-cell gonadotropic hypothesis). Estradiol and FSH promote granulosa cell proliferation and increase the number of receptors on the granulosa cell membrane. Cyst fluid begins to form and accumulates in the cyst.

- Antral follicles

The secondary cyst is about 500mm in size. On days 5-7 of the cycle, only the dominant follicles can continue to grow due to the ability to convert androgens into estrogens, while the remaining follicles will be degraded. The dominant follicle continues to grow, secreting estradiol and inhibin B, which reduces FSH secretion from the pituitary. FSH stimulates the expression of LH receptors on the surface of granulosa cells. Increasing estradiol levels stimulate the release of peak LH from the pituitary gland, which occurs when E2 levels peak at 12-14 hours. At least 33 regulators of follicular growth and regression have been identified, including ovarian peptides, of which Insulin-Like Growth factor I (IGF-I) plays an important role in promoting the process of aromatherapy, stimulates cell division of granulosa cells and increases the number of LH receptors. Inhibin inhibits the production of FSH, Activin.

- Preovulate follicle

Pre-ovulatory follicles are round and contain follicular fluid. They are attached to the follicular wall by the stalk and contain oocyte (oophoros cumulus) cells. High-frequency transducer ultrasound can show oocytes about 36 hours before ovulation. Increased estrogen levels increase LH secretion. The LH peak causes the follicle to lutealize and stimulates the granulosa cells to produce progesterone. LH stimulates the production of cytokines of which the best known is Interlekin-1 (IL-1) which has a prostaglandin and proteolytic effect that causes ovarian follicle rupture. Ovulation occurs about 34-36 hours after the peak of LH, when the follicle reaches an average size of 20 mm, the ovum in the follicle is released, moving along the fallopian tube to the uterine cavity. After ovulation, the remaining follicular cells become the corpus luteum and continue to produce estradiol, progesterone, and inhibin, which inhibit the growth of other follicles. At the end of the luteal phase, without hCG, the corpus luteum will atrophy, causing the levels of ovarian hormones to drop, causing the lining of the uterus to shed, and allowing the hormone FSH to rise gradually to begin an new ovarian cycle.

For the IVF/ICSI cycle, follicular stimulation is usually performed with recombinant FSH and a GnRH analogue to inhibit the occurrence of an early LH peak. At the end of the cycle, hCG or GnRH agonist is used to "simulate" the natural endogenous LH surge to trigger oocyte maturation and initiate ovulation. When ovarian stimulation is performed, depending on individual patient factors, results can be classified into 4 main groups [4]:

- Poor responders according to Bologna criteria: 3 oocytes obtained
- Sub-optimal responder: 4 to 9 oocytes are obtained
- Normal responder: 10 to 15 oocytes are obtained
- Hyper-responder: 15 oocytes obtained

Therefore, identifying and classifying patients is the key to choosing the correct treatment strategy.

Many factors influencing regimen choice and response to ovarian stimulation have been demonstrated, such as [5]:

- Frequency and range of GnRH . pulses
- Different isoforms of FSH and LH
-FSH receptor gene polymorphism
- Intracellular signaling
- Inter-individual differences (age, BMI, AMH, AFC and endocrine status, serum follicle-stimulating hormone-FSH basis)

In HTSS, a combination of factors can exacerbate the decrease in the concentration and biological activity of FSH and LH leading to a poor or suboptimal response to ovarian stimulation [5].

Genetic variations are thought to be sensitization to ovarian stimulation and poor or suboptimal response in some patients. Studies have demonstrated that several single-nucleotide polymorphisms (SNPs) on genes encoding follicle-stimulating hormone receptor (FSHR) or genes encoding the β subunit of LH hormone are involved in alteration response to ovarian stimulation. Therefore, some women in the suboptimal or suboptimal response group may carry one of these SNPs and require higher doses of gonadotropins or prolonged stimulation, which is different from the prediction of stimulus response based on the ovaries reserve marker. [6].

Hundreds of common variants or single-nucleotide polymorphisms (SNPs) on genes encoding FSHR have been identified. Of these, 4 gene variants (rs6165, rs6166, rs1394205, rs10835638) have been shown to be related to the decline in ovarian function and affect the effectiveness of controlled ovarian stimulation for women. have normal ovarian function [7].

  •  Polymorphism rs6165: Allele G at position 919 (c.919G>A). p.Ala307Thr. Amino acid substitution results in a change from a polar amino acid to a nonpolar, hydrophobic amino acid and the removal of a potential O-linked glycosylation site. Variant 307Ala/Ala (G/G) is associated with poor ovarian response. [8, 9]
    • Polymorphism rs6166: Allele G at position 2039 (c.2039G>A). p.Ser680Asn. Amino acid substitution leads to a potential phosphorylation site in the intracellular domain of the receptor. The 680Ser/Ser (G/G) variant is associated with poor ovarian response [10, 11].
    • Polymorphism rs1394205: The SNP is located in the promoter region of the FSHR gene, the upstream sequence of the translation initiation codon (c.-29G>A). Variant A/A is associated with poor ovarian response [12, 13].
    • Polymorphism rs10835638: SNP located in the promoter region of the FSHB gene affects the transcription of the gene (c.-211G>T). T/T and G/T variants are associated with poor ovarian response [14].

Currently, GENTIS is performing FSH receptor gene polymorphism testing that allows the identification of genetic variants associated with response to ovarian stimulation. Detail:

FSHR: rs6165, rs6166, rs1394205
FSHB: rs10835638

Ovarian stimulation (KTBT) plays an important role in HTSS techniques. Antibiotic regimens can use FSH alone or in combination for high clinical pregnancy rates. There is no one ideal IVF regimen for all patients, so it is important to choose an appropriate IVF regimen based on many factors such as age of the wife, ovarian reserve, history of previous IVF attempts, and polymorphisms. FSH receptor gene. Appropriate use, proper use, careful monitoring of the FSH regimen will limit complications with a high clinical pregnancy rate.

References :

[1] Gallos, Ioannis D et al. “Controlled ovarian stimulation protocols for assisted reproduction: a network meta‐analysis.” The Cochrane Database of Systematic Reviews vol. 2017,3 CD012586. 9 Mar. 2017, doi:10.1002/14651858.CD012586

[2] Quaas, Alexander M, and Richard S Legro. “Pharmacology of medications used for ovarian stimulation.” _Best practice & research. Clinical endocrinology & metabolism_ vol. 33,1 (2019): 21-33. doi:10.1016/j.beem.2018.10.002

[3] Araújo, Valdevane R et al. “In vitro culture of bovine preantral follicles: a review.” Reproductive biology and endocrinology : RB&E vol. 12 78. 13 Aug. 2014, doi:10.1186/1477-7827-12-78

[4] Vaiarelli, A., Cimadomo, D., Ubaldi, N., Rienzi, L., & Ubaldi, F. M. (2018). What is new in the management of poor ovarian response in IVF?. Current opinion in obstetrics & gynecology, 30(3), 155–162. https://doi.org/10.1097/GCO.0000000000000452

[5] Bosch, E, et al. “Reduced FSH and LH Action: Implications for Medically Assisted Reproduction.” Human Reproduction, vol. 36, no. 6, 2021, pp. 1469–1480., https://doi.org/10.1093/humrep/deab065.

[6] Simoni, M et al. “Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.” Human reproduction update vol. 14,5 (2008): 459-84. doi:10.1093/humupd/dmn024

[7] Conforti, Alessandro et al. “Effect of Genetic Variants of Gonadotropins and Their Receptors on Ovarian Stimulation Outcomes: A Delphi Consensus.” Frontiers in endocrinology vol. 12 797365. 1 Feb. 2022, doi:10.3389/fendo.2021.797365

[8] Simoni, Manuela, and Livio Casarini. “Mechanisms in endocrinology: Genetics of FSH action: a 2014-and-beyond view.” European journal of endocrinology vol. 170,3 R91-107. 4 Feb. 2014, doi:10.1530/EJE-13-0624

[9] Alviggi, Carlo et al. “Clinical relevance of genetic variants of gonadotrophins and their receptors in controlled ovarian stimulation: a systematic review and meta-analysis.” Human reproduction update vol. 24,5 (2018): 599-614. doi:10.1093/humupd/dmy019

[10] Aittomäki, K et al. “Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure.” Cell vol. 82,6 (1995): 959-68. doi:10.1016/0092-8674(95)90275-9

[11] Alviggi, Carlo et al. “In Estimated Good Prognosis Patients Could Unexpected "Hyporesponse" to Controlled Ovarian Stimulation be Related to Genetic Polymorphisms of FSH Receptor?.” Reproductive sciences (Thousand Oaks, Calif.) vol. 23,8 (2016): 1103-8. doi:10.1177/1933719116630419

[12] Wunsch, Alain et al. “Single-nucleotide polymorphisms in the promoter region influence the expression of the human follicle-stimulating hormone receptor.” Fertility and sterility vol. 84,2 (2005): 446-53. doi:10.1016/j.fertnstert.2005.02.031

[13] Lindgren, I et al. “Gonadotropin receptor variants are linked to cumulative live birth rate after in vitro fertilization.” Journal of assisted reproduction and genetics vol. 36,1 (2019): 29-38. doi:10.1007/s10815-018-1318-y

[14] Schüring, Andreas N et al. “Effects of the FSH-β-subunit promoter polymorphism -211G->T on the hypothalamic-pituitary-ovarian axis in normally cycling women indicate a gender-specific regulation of gonadotropin secretion.” The Journal of clinical endocrinology and metabolism vol. 98,1 (2013): E82-6. doi:10.1210/jc.2012-2780

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Tan máu bẩm sinh (thalassemia) là căn bệnh di truyền gen bệnh từ bố và/ hoặc mẹ sang cho con. Khi cả vợ và chồng cùng mang gen bệnh di truyền lặn thì có tới 50% khả năng con mang gen bệnh và chỉ có 25% khả năng con bình thường. Tùy thuộc vào đột biến mắc phải mà người bệnh Thalassemia sẽ có những biểu hiện lâm sàng khác nhau, đa phần người bị tan máu thường xuyên sẽ bị thiếu máu mãn tính, dẫn đến việc cần phải được truyền máu và thải sắt suốt đời.

Do đó việc phát hiện sớm và tầm soát có vai trò vô cùng cần thiết. Các cặp vợ chồng chuẩn bị có thai, đặc biệt các gia đình đã có người bệnh Thalassemia nên đi khám sàng lọc để phát hiện kịp thời và có biện pháp phòng ngừa thích hợp nhờ vào kỹ thuật PGT-M.

Kỹ thuật PGT-M (hay còn gọi là Preimplantation genetic diagnosis/ PGD - chẩn đoán di truyền tiền làm tổ) là xét nghiệm được thực hiện trên các phôi, nhằm phát hiện các bệnh di truyền do đột biến gen đã định hướng từ trước hoặc có tiền sử gia đình rõ ràng. PGT-M có thể kiểm tra bộ gen của phôi từ giai đoạn rất sớm, từ đó phát hiện ra các đoạn bất thường trên 1 gen cụ thể mà được di truyền từ bố mẹ.

Từ đó, các phôi đồng hợp gen bệnh sẽ bị loại bỏ trước khi chuyển vào trong buồng tử cung của mẹ. Hiệu quả của phương pháp này đã được chứng minh giúp hạn chế tình trạng trẻ sinh ra mắc bệnh cũng như hạn chế việc phải chấm dứt thai kỳ nửa chừng khi thai nhi bị bất thường thiếu máu nặng.

Không chỉ có hiệu quả trong việc chẩn đoán bệnh Thalassemia, kỹ thuật PGT-M còn giúp chẩn đoán nhiều bệnh lý di truyền đơn gen hiếm gặp khác của phôi. Tính đến nay, ngoài việc thực hiện sàng lọc PGT-M Thalassemia cho hàng ngàn phôi của hơn 1000 cặp vợ chồng, GENTIS đã triển khai kỹ thuật PGT-M cho rất nhiều bệnh lý di truyền hiếm gặp khác như: Loạn dưỡng cơ Duchenne, Thoái hóa cơ tủy, Hemophilia, Tăng sản thượng thận bẩm sinh, … 

Tại GENTIS, cùng với việc ứng dụng các công nghệ kỹ thuật mới, sử dụng hệ thống máy móc hiện đại (công nghệ Veriseq PGS, hệ thống giải trình tự ADN thế hệ mới NGS Illumina - Mỹ và các phương pháp phân tích SNP, STR), xét nghiệm PGT-M được thực hiện một cách chặt chẽ nhằm mang lại kết quả có độ tin cậy nhất theo đúng tiêu chuẩn ISO 9001:2015.

Trong thời gian sắp tới, với công nghệ hiện đại đang ngày một phát triển, GENTIS sẽ không ngừng nghiên cứu PGT-M trên nhiều bệnh lý di truyền hiếm gặp khác, tăng cao tỷ lệ thành công cho quá trình sàng lọc tiền làm tổ để mang lại niềm vui, niềm hạnh phúc, đón chào những em bé khỏe mạnh tới các gia đình.

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IVF has undergone more than 25 years of development in Vietnam, and marks 25 years since the first IVF babies were born in 2023. In recent years, the field of assisted reproduction in Vietnam has been highlighted having a faster growth rate than other countries in the region. To date, there are more than 40 licensed IVF centers operating in Vietnam, with an estimated 40,000 new treatment cycles per year. With this scale, Vietnam is currently the country that performs the most IVF in the ASEAN region.

In addition to the growth in quantity, the professional quality and management level of IVF centers have also developed rapidly. Currently, IVF Vietnam is considered to have a high reputation and expertise in the region and around the world. At the same time, IVF centers also invest in the quality of medical services. It is expected that in the future, IVF Vietnam will continue to develop at a fast pace and Vietnam can become a country with a thriving and pioneering assisted reproductive industry in the region.

In order to contribute to the future development of Vietnam's assisted reproductive industry, the "IVF Summit" is held every 2 years to create opportunities for managers and executives of the centers. IVF in Vietnam met and discussed management and operation issues in Vietnam. This is also a forum for center managers to share experiences, exchange issues in practice, as well as share industry orientations, contributing to helping Vietnam's fertility support industry in accordance with the law to keep up with the development of countries in both professional and management.

Following the previous conference, in 2023, the 3rd IVF Summit was successfully held on February 25 in Da Lat city, attracting nearly 300 delegates with 4 official sessions and 12 reports presented by experts. from leading units and hospitals such as the Department of Maternal and Child Health Ministry of Health, Central Obstetrics and Gynecology Hospital, Tu Du Hospital, Binh Dan Hospital, Tam Anh General Hospital, etc. Attendees to the conference are limited to 1. Leaders of major hospitals, reproductive support centers to be updated with practical knowledge.

The conference program includes topics related to the trends in expertise, techniques and technology in the field of IVF, the development situation of the policy society related to the development of the industry and sharing experiences in the daily operation of IVF centers.

Prominent among them are reports on current important content such as: "Medical insurance in infertility", "Cost of an in vitro fertilization cycle from a medical economic perspective", "Building building effective quality indicators for an HTSS center", "The role of clinical genetics in practice", "Current trends in the HTSS lab"...

Participating in this year's conference, representatives of GENTIS's leadership have acquired new knowledge about assisted reproductive technology, and determined the goal of improving laboratory quality and testing techniques to ensure results. Accurately sent to hospitals and centers.

Dr. Pham Dinh Minh, Director of GENTIS Research and Development Center shared after the conference: “IVF Summit has brought a lot of useful knowledge to doctors and specialists, especially testing and support units. reproductive aid. GENTIS is honored to participate in this conference to update the techniques of assisted reproductive testing in accordance with the reality of the doctor's appointment at the institute. It is hoped that the conference will be held regularly to create a useful playground for experts and doctors in the field of assisted reproductive technology.”

Once again, GENTIS company would like to congratulate the Conference on a great success. To serve hospitals and clinics in the field of assisted reproductive technology, GENTIS promises to always ensure the quality of tests and develop many new valuable products to provide to all doctors and infertility family.

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GENTIS & Viet-Belg Hospital: Updating Gynecological Tests and FSH Tests to Support Ovarian Stimulation Treatment

On April 6, the GENTIS Research and Product Management team went directly to the Vietnam Belgium Hospital for Andrology and Infertility to update the new progress information of the Gynecological Tests and the FSH Test to support the treatment of women ovarian stimulation.

GENTIS accompanies the Hanoi Fertility Association at the ART Advanced Conference 08 "Art of Assisted Reproductive Treatment based on patient characteristics"

On April 1, 2023, the ART Advanced 08 Knowledge Exchange Forum with the topic "Art of Assisted Reproductive Treatment based on patient characteristics" took place solemnly at Melia Hotel. GENTIS is honored to be a sponsor accompanying the program and exhibiting booths about solutions to improve efficiency in assisted reproduction.

GENTIS attends ART Advanced Knowledge Exchange Forum 08

Following the success of previous years, the ART Advanced 08 Knowledge Exchange Forum will be held on April 1, 2023 with many domestic and international experts. GENTIS is honored to participate in the Conference with interesting specialized reports.

Distinguish 3 groups of commonly used PGT tests

. Preimplantation Genetic Testing (PGT) is a specialized technique to identify genetic abnormalities of embryos produced by in vitro fertilization (IVF/ICSI).

GENTIS updates new optimization on PGT-M technique at Phu Tho Obstetrics and Gynecology Hospital

On March 16, GENTIS company held a seminar to update new information on genetic analysis techniques before transferring PGT-M single-gene disease embryos to the team of doctors at the Fertility Support Dept of Phu Tho Obstetrics and Pediatrics Hospital.

FSH receptor gene polymorphism and response to ovarian stimulation

In IVF/ICSI procedures, the first and most important step is to implement a regimen of controlled ovarian stimulation (COS).

Ứng dụng của PGT-M trong sàng lọc bệnh Thalassemia

Thalassemia là bệnh thiếu máu di truyền rất nguy hiểm và phổ biến. Trung bình 7% dân số trên toàn cầu mang gen bệnh tan máu bẩm sinh; 1,1% cặp vợ chồng có nguy cơ sinh con bị bệnh hoặc mang gen bệnh. Tại Việt Nam, tỷ lệ mang gen bệnh ở người Kinh là 13%, tương đương khoảng 14 triệu người mang gen bệnh trên cả nước.

GENTIS attends IVF Summit organized by HOSREM

On February 25, GENTIS was honored to appoint a representative of the leadership to participate in the IVF Summit Conference organized by the Society of Reproductive Endocrinology and Infertility (HOSREM) to update the leading knowledge on assisted reproduction.
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