Expert opinion

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            [slug] => The-role-and-connection-between-clinical-doctors-geneticists-and-genetic-labs-in-diagnosis-and-screening-of-genetic-diseases
            [title] => The role and connection between clinical doctors, geneticists, and genetic labs in diagnosis and screening of genetic diseases
            [description] => In modern medicine, particularly in the diagnosis and screening of genetic diseases, the collaboration between clinical doctors, geneticists, and genetic laboratories plays an extremely important role. This is a closed-loop process that ensures patients receive accurate results, supporting the best treatment and prognosis possible.
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The Importance of Genetic Testing in Diagnosis and Disease Screening 
According to Ms. Katie Battese Ellis (Senior Director of Medical Affairs at Illumina in several APAC countries), in the past, there were not many available tests, so doctors often gathered the patient's characteristics to identify any potential issues. However, with the development of modern medicine, numerous genetic tests are now available, making the diagnosis and screening of diseases easier.
Dr. Pham Dinh Minh, Ms. Katie Battese Ellis, and Associate Prof. Dr. Ho Sy Hung (from left to right) 
With these advancements, we can conduct pre-pregnancy tests to see if both partners are carrying the same genetic condition. Pregnant women can undergo testing to monitor fetal development. Newborn screening tests can also be performed to detect conditions that may affect the health and development of the child later on.
From the test results, geneticists and clinical doctors will discuss and create a plan for better monitoring or treatment for the patient. This not only helps save time and treatment costs but also ensures the health and future happiness of the entire family.
As one of the leading experts in reproductive medicine in Vietnam, Associate Prof. Dr. Ho Sy Hung (Deputy Director of the National Reproductive Support Center) mentioned that the collaboration between genetic experts and clinical doctors is crucial. In reproductive medicine, the success rate of pregnancy is about 50%. However, some patients experience repeated miscarriages for unknown reasons, have a history of genetic diseases, or have undergone multiple IVF cycles without success. These cases require pre-implantation genetic testing (PGT) to select healthy embryos for implantation.
Currently, there are three types of traditional PGT tests: PGT-A, PGT-SR, and PGT-M. PGT-A helps identify normal embryos and increases the chances of success in IVF. PGT-SR can detect unbalanced translocations in embryos before transfer, allowing for the selection of normal embryos, thus increasing the chances of a successful pregnancy. PGT-M is used to screen for monogenic genetic diseases, ensuring that only embryos without genetic mutations are transferred.
GENTIS is a pioneering unit in Vietnam capable of accurately and professionally performing PGT tests with the most advanced techniques, along with a team of highly qualified experts. Notably, GENTIS can screen for about 100 monogenic diseases using PGT-M.

In addition, GENTIS also offers PGT NEXT and PGT UPGRADE with outstanding advantages. PGT NEXT can detect chromosomal abnormalities on all 24 chromosomes, additional abnormalities, chromosomal segment deletions, and aneuploidy. Meanwhile, PGT UPGRADE can detect chromosomal abnormalities, segment deletions, and balanced translocations inherited from parents.
Experts Participating in the Genetic Counseling Talkshow – Discussion with Experts at GENTIS

At GENTIS, PGT testing is conducted in an ISO-standard lab using advanced genetic sequencing methods like NGS, Sanger, or PCR, carried out by skilled technicians and experienced analysts. Afterward, geneticists provide the final conclusions and send them to clinical doctors for patient consultation, ensuring the transfer of healthy embryos into the mother's uterus.
According to Dr. Pham Dinh Minh, genetic and genomic testing is booming in Vietnam. Therefore, GENTIS needs the collaboration between doctors, geneticists, and labs to make genetic tests more accessible and useful, especially in reproductive medicine, obstetrics, and newborn screening.
In the near future, GENTIS will incorporate AI and bioinformatics to screen for more diseases and provide more clinical information to assist doctors in offering the best treatment options for patients.
The Connection Between Clinical Doctors, Geneticists, and Genetic Labs 
The close collaboration between clinical doctors, geneticists, and genetic laboratories is crucial for the effectiveness of disease diagnosis and treatment. According to Ms. Katie, learning and sharing expertise is essential to strengthen cooperation among all parties.
Genetic labs should regularly update new tests, techniques, accuracy, and result turnaround times to ensure that clinical doctors and patients are better informed about the tests. This will help doctors develop the best treatment plan to save costs for patients.
Dr. Minh took Ms. Katie on a tour of the GENTIS testing center

From the clinical doctor's perspective, Associate Prof. Dr. Hung pointed out that genetic issues are challenging for both general clinical doctors and obstetricians in particular. Since tests and techniques in reproductive medicine are constantly developing and changing, continuous learning is necessary to share knowledge and assist patients.
For genetic labs, the quality of testing is the key. Based on test results, doctors can accurately diagnose diseases and develop appropriate treatment plans. Therefore, to bring new, high-quality tests to the market, the support of not only medical experts but also geneticists and technology innovators is essential, as Dr. Minh emphasized.
Based on modern medical advancements and technological progress, genetic testing is increasingly becoming an essential tool for screening and diagnosing diseases. However, to ensure maximum effectiveness, clinical doctors, geneticists, and genetic labs must work closely together. Only by functioning as a unified system can the healthcare system provide the most accurate, personalized, and optimal care for patients.
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            [slug] => https://gentis.com.vn/tin-tuc-c4/tien-si-pham-dinh-minh-bao-cao-tai-hoi-nghi-y-sinh-hoc-tzu-chi-academia-sinica-lan-thu-7-d1284
            [title] => Dr. Pham Dinh Minh reported at the 7th Tzu Chi - Academia Sinica Biomedical Conference
            [description] => On March 8, 2025, Dr. Pham Dinh Minh (Director of R&D GENTIS - Director of GENTIS Genetic Counseling Center) gave a report at the 7th Tzu Chi - Academia Sinica Biomedical Conference at Tzu Chi University, Hualien, Taiwan. The report was on the topic: "Development and application of AI/Bioinformatics in genetic and genomic testing in Vietnam".
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The 7th Tzu Chi - Academia Sinica Biomedical Conference
The 7th Tzu Chi - Academia Sinica Biomedical Conference 2025 was held at Tzu Chi University, Hualien City, Taiwan. This year's conference focused on the theme of “Applications of AI in Biomedical Research” and “Multidisciplinary Perspectives in Biomedical Research & Therapy”.
Dr. Pham Dinh Minh - Director of R&D GENTIS (standing in the middle) with experts at Tzu Chi University
The conference brings together leading scientists and experts in the field of biomedical science in the world from the US, Japan, Korea, Vietnam, Thailand, Indonesia, Philippines, etc. The conference provides delegates as well as the community developing artificial intelligence in medicine in general, biomedicine in particular, with the latest research and development as well as the market in the field of research and application of AI.
Report by Dr. Pham Dinh Minh at the 7th Tzu Chi - Academia Sinica Biomedical Conference
The application of genetic and genomic testing is booming in the healthcare sector in Vietnam. Recently, we have witnessed the rapid application of tests in many healthcare areas, such as reproductive health, obstetrics and gynecology, newborn screening, cancer and cardiovascular diseases…
As we know, the development of AI has attracted many people, especially those working in the field of research and development. For the general community, the development of AI tools such as China's Deepseek or xAI's Grok has greatly changed the development as well as the application in social life.

Dr. Minh presented the report "Development and application of AI/Bioinformatics in genetic and genomic testing in Vietnam"
In the medical field, although still very new, AI has also been developed. In Vietnam, there are very good potentials, especially the amount of data, the huge amount of data related to health and testing. In particular, GENTIS is one of the large testing units and has a huge amount of data in Vietnam about genetic testing, gene testing. This is one of the advantages of GENTIS to be able to apply to develop as well as research AI in the testing field.
At the 7th Tzu Chi - Academia Sinica Biomedical Conference, the report on the topic "Development and application of AI/Bioinformatics in genetic and gene testing in Vietnam" by Dr. Pham Dinh Minh (Director of R&D GENTIS - Director of GENTIS Genetic Counseling Center) attracted the attention of many attending experts. In the report, Dr. Pham Dinh Minh shared research and applications of AI and bioinformatics in genetic and gene testing, aiming to develop new tests and improve the quality of testing. Especially genetic testing in pre-implantation embryo screening, genetic testing in non-invasive prenatal screening as well as other genetic and gene testing.

Dr. Minh received a certificate at the 7th Tzu Chi - Academia Sinica Biomedical Conference
In addition, the report also provides the conference, as well as the Asia-Pacific scientific community, with information on the development, research, and application of AI, as well as bioinformatics in Vietnam in general and the medical, genetic and genetic testing fields in Vietnam in particular.
GENTIS applies AI/bioinformatics software in genetic research and testing
“Developing AI applications/bioinformatics software is one of the key, main areas that GENTIS is oriented to develop in the coming time. GENTIS is looking forward to finding opportunities to cooperate with partners as well as developing further, researching and developing the latest directions of artificial intelligence applications as well as applying AI technology in genetic testing, genetic testing to bring new and improved tests, improving the quality of current tests”, Dr. Pham Dinh Minh shared more.
Currently, GENTIS has research projects and applications of artificial intelligence as well as bioinformatics in the field of genetic and genetic testing. Specifically, GENTIS is researching and developing AI tools, bioinformatics tools for embryo screening, improving the quality of pre-implantation genetic testing for embryos, and non-invasive prenatal screening NIPT.
Technological autonomy will help improve testing efficiency, optimize testing, improve testing quality, and use Vietnamese data. At the same time, it can help reduce testing costs, as well as bring different testing packages and testing features into GENTIS's current testing packages and testing services.
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            [slug] => Breakthroughs-in-the-application-of-genetic-testing-in-reproductive-medicine-worldwide-and-in-Vietnam
            [title] => Breakthroughs in the Application of Genetic Testing in Reproductive Medicine Worldwide and in Vietnam
            [description] => During her visit and work in Vietnam, Assoc. Prof. Dr. Francesca Spinella (Senior Medical Information Specialist at Eurofins Genoma Group, Former President of ESHRE PGT Consortium) expressed her admiration for the remarkable advancements made by genetic testing laboratories in the diagnosis and treatment within the field of reproductive medicine. In particular, she praised GENTIS for both its professional expertise and state-of-the-art facilities. She mentioned that the collaboration between GENTIS and GENOMA will enhance multi-level development among global healthcare organizations, particularly in the area of genetic testing.
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Genetic Breakthroughs in Preimplantation Genetic Testing Being Applied in Europe and Vietnam
Assoc. Prof. Dr. Francesca Spinella explained that there are currently three widely used preimplantation genetic testing techniques being applied across Europe and globally: PGT-A, PGT-SR, and PGT-M. These primary methods help improve the success rates of in vitro fertilization (IVF) while reducing the risk of serious genetic disorders in future generations.
Among these, PGT-A helps detect chromosomal aneuploidy to screen out embryos that have abnormalities. This method has been proven to increase IVF success rates, decrease miscarriage rates, and ensure that the embryos implanted are the healthiest.
PGT-M is used to detect genetic mutations that could be inherited from parents, helping to avoid passing on common monogenic disorders like thalassemia, cystic fibrosis, Huntington's disease, and other genetic conditions. PGT-SR can detect structural chromosome abnormalities such as translocations, inversions, or deletions. These abnormalities can cause pregnancy complications and increase the risk of giving birth to a child with birth defects.
In addition to the widely implemented techniques, Assoc. Prof. Dr. Francesca Spinella mentioned two promising new methods that are being researched and developed in Europe: Non-invasive PGT-A (NiPGT-A) and PGT for ploidy (Ploidy). These breakthroughs are driven by the rapid development of genetic sequencing technologies, opening new possibilities for reproductive healthcare.
NiPGT-A represents a breakthrough in preimplantation genetic testing, allowing for testing without the need for embryo biopsy, thus minimizing potential risks to the embryo. This method detects chromosomal abnormalities in embryos from the culture medium, providing greater convenience and safety. Meanwhile, PGT for ploidy (Ploidy) is an advanced test that accurately determines the number of chromosomes in the embryo, helping to select embryos with a complete chromosomal set, thereby reducing the risk of reproductive issues or birth defects.
Assoc Prof. Dr. Francesca Spinella also expressed her deep impression with the preimplantation genetic testing methods being used in Vietnam. She stated that the expertise and modern facilities of the labs, especially at GENTIS, are on par with leading genetic testing centers worldwide.
Assoc Prof. Dr. Francesca Spinella Visits and Works at GENTIS Lab
In addition to common tests like PGT-A, PGT-M, and PGT-SR, GENTIS is also focusing on researching and developing two breakthrough techniques: PGT-Next and PGT-Upgrade. PGT-Next is an advanced method that combines the features of both PGT-A and PGT-SR, with the added capability of detecting chromosomal number abnormalities such as polyploidy and haploidy in embryos. This improves diagnostic accuracy, minimizes the risk of pregnancy with embryos that have chromosomal abnormalities, and optimizes the chances of a healthy pregnancy.
PGT-Upgrade is a significant advancement in genetic diagnosis of embryos. In addition to detecting abnormalities in chromosome number (PGT-A) and structure (PGT-SR), PGT-Upgrade can identify balanced chromosomal translocations passed from parents to embryos. This method helps detect hidden risks that PGT-A and PGT-SR cannot diagnose, while also identifying genetic factors that could affect the health of future generations. PGT-Upgrade offers superior advantages in selecting healthy embryos for artificial reproduction, thereby improving IVF success rates.
Strengthening Relationships and Promoting Multilateral Cooperation Among Global Healthcare Organizations
Promising Collaboration Between GENTIS and GENOMA
Through her visit and discussions, Assoc. Prof. Dr. Francesca Spinella noted that Vietnam’s healthcare services, particularly in reproductive medicine, have significant potential for growth. She emphasized that this event not only provided an opportunity to exchange ideas on advancements in genetic testing but also served as a clear testament to the sustainable and strategic partnership between GENTIS and GENOMA, both members of the Eurofins family. The cooperation between GENTIS and GENOMA is not based solely on commercial interests but also on the shared commitment to scientific research and advanced technologies. Both organizations share values in improving reproductive health and providing accurate and reliable genetic testing services for families and healthcare professionals in their reproductive health journeys.
This collaboration also allows GENTIS to access the latest genetic testing technologies and implement them in Vietnam, enhancing the quality of reproductive healthcare services domestically and contributing to the development of the genetic testing industry in Southeast Asia. GENTIS’s clients will now benefit from advanced genetic testing services, which offer the opportunity for healthy childbirth and minimize risks during pregnancy.

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            [slug] => learning-about-new-genetic-tests-in-reproductive-support-worldwide-and-their-application-in-europe-with-assoc-prof-dr-francesca-spinella
            [title] => Learning About New Genetic Tests in Reproductive Support Worldwide and Their Practical Application in Europe with Assoc. Prof. Dr. Francesca Spinella
            [description] => With the goal of updating knowledge to enhance the effectiveness of medical examination and treatment, as well as to introduce reproductive support techniques being applied in Europe, the GENTIS Genetic Counseling Center successfully organized the 5th edition of the Genetic Counseling Talkshow - Discussion with Experts. The theme was “Application of New Genetic and Genomic Testing in Reproductive Support Worldwide and Their Practical Use in Europe.” GENTIS was honored to have Assoc. Prof. Dr. Francesca Spinella (Senior Medical Information Specialist of Eurofins Genoma Group, Former Chair of the ESHRE PGT Consortium) and Dr. ThS. BSNT Đinh Thị Quỳnh Ngọc (GENTIS Genetic Counseling Center) as speakers. The program attracted widespread attention from doctors, specialists, and many audiences interested in reproductive support methods.
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Speaking about the pre-implantation genetic testing (PGT) techniques currently used in Europe, Assoc. Prof. Dr. Francesca Spinella said: "Currently, there are three common types of pre-implantation genetic tests: PGT-A, PGT-SR, and PGT-M. PGT-A is used to detect chromosomal abnormalities, allowing the selection of embryos without chromosomal abnormalities for embryo transfer. PGT-M is a tool to detect genetic mutations that could be inherited from the parents, thereby preventing the transfer of embryos with genetic disorders. PGT-SR is a method capable of detecting structural chromosomal abnormalities of 5Mb or more in embryos, thus increasing the chances of achieving a successful pregnancy by selecting normal embryos."
In addition to the three conventional PGT tests, Assoc. Prof. Dr. Francesca Spinella also discussed two new methods: Non-invasive PGT-A (NiPGT-A) and PGT for Ploidy (Ploidy). “NiPGT-A provides the opportunity to test embryos without the need for biopsy, by analyzing DNA in the culture medium. Meanwhile, PGT for Ploidy helps detect the presence of specific chromosomal abnormalities in embryos, thus avoiding the transfer of these embryos." However, she also mentioned that more research is needed to further validate the effectiveness of these two methods.

Assoc. Prof. Dr. Francesca Spinella also addressed several audience questions, including the importance of genetic counseling in IVF procedures, criteria for selecting mosaic embryos for transfer, and especially the appropriate timing for performing PGT methods, especially PGT for Ploidy. She spent a lot of time discussing the advantages, practical applications, and outcomes that can be achieved by using the genetic testing methods currently applied in Europe.
Understanding the concerns of infertile couples about the cost of these procedures, Assoc. Prof. Dr. Francesca Spinella shared: "The new PGT tests are optimal methods, incorporating advanced techniques from pre-implantation genetic screening. Therefore, it is understandable that the costs of these tests are slightly higher. However, in the future, the cost of these tests may decrease due to rapid technological advancements and the widespread adoption of testing. For example, the first PGT tests had extremely high costs when they were first introduced, but over time, the costs have stabilized, allowing many patients to access this method."
Notably, during the conversation, Assoc. Prof. Dr. Francesca Spinella provided in-depth insights and timely answers, helping doctors, specialists, and viewers better understand the application of current pre-implantation genetic tests. The Talkshow program was a success, attracting thousands of views, numerous shares, and receiving a lot of support from the audience.

Before concluding the Talkshow, Assoc. Prof. Dr. Francesca Spinella shared that she was very impressed after visiting some PGT and IVF labs in Vietnam, particularly GENTIS. She further mentioned that she was impressed with the facilities and the quality of healthcare professionals in Vietnam. Additionally, Assoc. Prof. Dr. Francesca Spinella noted that “Vietnam’s healthcare services in general, and reproductive support in particular, have a lot of potential for development” and emphasized the collaborative relationship within the Eurofins family, both scientifically and commercially.
We hope that the insights shared by the experts during the Talkshow will be beneficial for doctors and the audience. GENTIS Genetic Counseling Center sincerely thanks the doctors, partners, experts, and clients for their participation. We will continue to organize more Genetic Counseling Talkshow programs to provide valuable information to the audience.



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            [title] => Genetic Counseling and PGT Testing: From International Guidelines to Clinical Practice in Vietnam
            [description] => Currently, the demand for Preimplantation Genetic Testing (PGT) among couples at high genetic risk, who wish to have healthy children, is increasing. Preimplantation Genetic Testing (PGT) was developed to screen and detect genetic abnormalities in embryos before they are implanted into the mother’s uterus.
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With advances in technology and testing methods, PGT continues to be developed and clinically validated, thereby improving the success rates of assisted reproductive treatments. This is especially beneficial for parents with genetic diseases, allowing them to have healthy children free from genetic disorders.
According to global publications and studies, using next-generation sequencing (NGS) technology, current PGT tests can screen for and detect abnormalities in chromosome number (aneuploidy) across 23 pairs of chromosomes, known as PGT-A, structural chromosome abnormalities (addition/deletion/duplication), known as PGT-SR, single-gene disorders, known as PGT-M, and recently, some reports have emerged regarding the development of PGT for polygenic diseases (PGT-P). As the use and complexity of preimplantation genetic testing (PGT) increases, genetic counseling has become an essential part of modern medicine. GENTIS successfully organized a scientific seminar on "Genetic Counseling and PGT Testing: From International Guidelines to Clinical Practice in Vietnam."

At the seminar, Specialist Doctor Level 1 Nguyen Van Thong,, Head of the Department of Medical Genetics at Hung Vuong Hospital, explained: "Genetic counseling is a process that provides information, support, and guidance related to genetics and genetic risk factors for individuals or families. It helps assess the likelihood of inheriting genetic diseases based on family history or genetic test results. Additionally, it provides knowledge about genetic-related diseases or conditions, such as cancer, genetic disorders, or congenital abnormalities.
Furthermore, doctors will counsel on the benefits, limitations, and risks of genetic tests to help patients make informed decisions. Once the genetic test results are available, the doctor will explain the results and their implications for personal and family health. In addition, genetic counseling also provides psychological support to help patients and families deal with worries or emotions related to the results or genetic risks. Moreover, doctors will discuss follow-up, treatment, or prevention measures based on genetic risks."

Specialist Doctor Level 1 Nguyen Van Thong, also emphasized the importance of collaboration among genetic specialists, infertility doctors, embryologists, and healthcare workers to ensure the highest efficacy in the testing process. He also shared the role of PGT in supporting couples to have healthy children by screening and detecting genetic abnormalities. Technological advancements in PGT-A/SR and PGT-M not only increase the chances of successful pregnancies but also reduce the risks of miscarriage and serious genetic diseases in the fetus.
From a clinical perspective, Dr. Le Thi Minh Chau, Head of the Infertility Department at Tu Du Hospital, shared that over the past thirty years, there have been rapid advancements in genetic testing and assisted reproductive technology, reshaping the PGT testing process. The development of whole genome amplification (WGA) tools, combined with optimized hormonal stimulation protocols and more effective cryopreservation methods, has led to more accurate diagnoses and improved clinical outcomes. Furthermore, the shift from day 3 to day 5 or early day 6 embryo biopsy has altered the timeline for a typical PGT clinical process.

Although PGT helps reduce pregnancy terminations, in cases such as families with single-gene disorders, PGT is a relevant option for preimplantation genetic diagnosis. However, PGT remains a solution that requires discussion and consensus guidelines. Some of the complexities in the IVF process are especially relevant for couples without fertility issues, including the risk of diagnostic errors, potential embryo damage from invasive procedures, and ethical concerns. Therefore, the decision to undergo PGT is complex and always involves a stressful decision-making process.
Sharing her experience with PGT testing in Europe, Prof. Dr. Francesca Spinella, Senior Medical Information Specialist at Eurofins Genoma Group and Senior Consultant at GENTIS, explained: "Preimplantation Genetic Testing is a growing trend in Europe and globally. PGT analyzes genetic abnormalities (gene level and chromosomal abnormalities) in embryos before transferring them into the mother's uterus, helping to select embryos with a high implantation potential and a good chance of producing a healthy baby. However, in Europe, only reputable tests such as PGT-A, PGT-SR, and PGT-M are accepted and widely monitored by the ESHRE PGT Consortium."
The ESHRE PGT Consortium, founded in 1997, is responsible for collecting data on the accuracy, reliability, efficacy, and safety of PGT-A, PGT-M, and PGT-SR. It also establishes minimum standards and promotes best practice guidelines. Additionally, the Consortium facilitates the exchange of ideas and perspectives among members.
At the seminar, Prof. Dr. Francesca Spinella also introduced new PGT tests being developed at Eurofins Genoma Group. She noted that Eurofins Genoma Group is researching and developing a new PGT testing package called PGT Next. PGT Next, in addition to detecting chromosomal abnormalities such as PGT-A/SR, can also detect aneuploidy, identify euploid embryos without abnormalities, even in cases of embryo morphological abnormalities.
Through the seminar "Genetic Counseling and PGT Testing: From International Guidelines to Clinical Practice in Vietnam," GENTIS hopes that attendees have gained new information and knowledge about preimplantation genetic testing (PGT) and a clearer understanding of the value and applicability of PGT tests in assisted reproduction. This will contribute to improving clinical outcomes, supporting patients in making informed decisions, and increasing the chances of successful pregnancies and healthy babies.
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            [title] => Genetic test applications in enhancing the effectiveness in assisted reproductive examinations and treatments 
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Genetic roles in assisted reproduction
According to the World Health Organization’s statistics, infertility affects approximately 10% of couples of productive age. WHO has also pointed out that Vietnam is among the nations having the highest infertility rate in the world, in which 50% are those under 30. In Vietnam, It is estimated that 1 million couples face with infertility annually, accounting 7,7%
The infertility rate is equally 40% for male and female, 10% for both spouses, and 10% with unidentified causes. This phenomenon indicates that infertility can be attributed to both male and females. 

Dr. Pham Dinh Minh presented the report “Researching and applying genetic tests in enhancing the effectiveness in assisted reproduction examinations and treatments in Vietnam”

In addition to causes such as pathology, environment, and lifestyle; Genetics and abnormalities due to mutations in genes also cause infertility. Presenting at the 5th annual science conference HASAM 2024, Dr. Pham Dinh Minh (Director of R&D department at GENTIS) revealed “Genetics is involved in virtually all assisted reproductive processes, facilitating the diagnosis of genetic pathologies and their prevention in subsequent generations, determining and diagnosis of infertility’s root causes, recurrent miscarriages, and supporting reproductive enhancement. Notably, the collaboration between genetic geneticists and clinicians, along with embryologists, contributes to establishing precise diagnoses and the most suitable, effective, and optimal assisted reproduction treatment strategies for patients”. 

According to the experts, genetic screening before embryo transfer is an essential breakthrough in the assisted reproduction field. Preimplantation Genetic Testing/ PGT analyzes genetic abnormalities ( in gene and chromosome level ) in embryos before being transferred into the mother’s uterus. 

Associate Professor Francesca Spinella presented the report: “Advances in Preimplantation Genetic Screening: A European Perspective and Data from the European Society for Human Reproduction and Embryology (ESHRE) PGT Consortium.”


Sharing about advancements in preimplantation genetic screening in Europe, Senior Expert Advisor of GENTIS - Assoc Prof. Dr. Francesca Spinella (Former president of the ESHRE PGT Consortium and Senior Medical Information Specialist at Eurofins Genoma Group) noted “There are 3 traditional types of preimplantation genetic testing (PGT) commonly used: PGT-A, PGT-SR, and PGT-M. In which, PGT-A helps identify euploid and aneuploid embryos, thus increasing the chances of success in in vitro fertilization (IVF). PGT-SR can detect structural abnormalities larger than 5Mb, allowing for the selection of normal embryos, thereby improving the likelihood of achieving a successful pregnancy. PGT-M is used to screen for single-gene inherited diseases, ensuring that only embryos free from genetic mutations are selected for transfer”.
Currently, Eurofines Genoma Group is researching and developing new PGT testing packages namely niPGT-A and PGT Next. NiPGT-A is a non-invasive PGT-A test performed on the used culture medium. Notably, PGT Next can detect chromosomal abnormalities, both number and structure, like PGT-A/SR, but it also has the capability to detect polyploidy and identify diploid embryos without abnormalities, even in cases of morphological abnormalities,” added Assoc Prof. Dr. Francesca Spinella.
GENTIS's Ecosystem of Genetic Tests in Reproductive Medicine
The presentation “Research and Application of New Genetic and Genomic Tests to Improve Reproductive Health Diagnosis and Treatment in Vietnam” by Dr. Pham Dinh Minh (Director of R&D at GENTIS) drew significant attention at the HASAM 2024 Annual Scientific Conference. Dr. Minh's report highlighted how modern genetic testing technologies have benefited patients and improved the effectiveness of reproductive treatments.

Eurofins Genoma Collaborates with GENTIS to Develop Advanced Genetic Testing Technologies
The report “Researching and applying new genetic tests to enhance the effectiveness in assisted reproductive examinations and treatments” performed by Dr. Pham Dinh Minh (Director of R&D department at GENTIS) had drawn huge attention from delegates at the HASAM 2024 conference. Dr. Minh’s report pointed out that advanced genetic tests have benefited patients as well as enhanced the effectiveness in assisted reproductive treatments. 

GENTIS is proud to be a leading Genetic Testing Center in Vietnam with state-of-the-art equipment. Notably, GENTIS is also the first genetic testing facility in Vietnam to achieve international standards – ISO 15189:2022 accredited by BoA and ISO/IEC 27001:2022 accredited by GICG, while fully complying with the strict regulations of the Ministry of Health and international external quality control programs.
Currently, GENTIS offers a complete ecosystem of genetic tests for reproductive support, including tests for parents, embryos, and conditions for embryo transfer; as well as tests for maternal health and pregnancy. These specialized tests help identify the causes of infertility in both men and women, screen for genetic abnormalities, prevent rare diseases in preimplantation embryos, and support embryo transfer and pregnancy monitoring. Conducting these in-depth tests enables clinicians to provide effective treatment solutions, helping to make the dream of parenthood a reality for many families facing infertility challenges.
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Khi mắc phải bệnh lý tăng đông máu, sản phụ có nguy cơ cao gặp các biến chứng thai kỳ như: tiền sản giật, sảy thai, lưu thai, thai chậm phát triển trong tử cung, sinh non... Đặc biệt lưu ý đối với phụ nữ làm IVF.



Tổng quan về Thrombophilia

Thrombophilia (hội chứng tăng đông/ưa huyết khối) là hội chứng rối loạn đông máu, khiến cho máu có xu hướng hình thành các cục máu đông cao hơn bình thường. Thrombophilia có thể gây ra huyết khối tĩnh mạch (VTE - Venous thromboembolism), đông máu rải rác nội mạch (DIC - Disseminated Intravascular Coagulation), huyết khối động mạch… 

Đối với phụ nữ, mang thai là một trạng thái tăng đông sinh lý nhằm duy trì chức năng của nhau thai trong thai kỳ, dự phòng mất máu trong và sau khi sinh, giảm thiểu tối đa các tai biến trong sản khoa, đặc biệt là băng huyết sau khi sinh. Tuy nhiên, khi mắc phải bệnh lý tăng đông máu, sản phụ có nguy cơ cao gặp các biến chứng thai kỳ như: tiền sản giật, sảy thai, lưu thai, thai chậm phát triển trong tử cung, sinh non… Đặc biệt lưu ý đối với phụ nữ làm IVF.
 



Nhiều nguyên nhân dẫn đến Thrombophilia

Có nhiều nguyên nhân dẫn đến hội chứng tăng đông Thrombophilia như: 

-  Sự tương tác giữa các yếu tố rủi ro di truyền: một số đột biến trong các gen mã hoá cho các protein liên quan đến quá trình đông máu như đột biến Factor V Leiden, gen prothrombin Factor II, gen Factor V R2, gen MTHFR và gen mã hóa Plasminogen activator inhibitor-1 (PAI-1).

-   Do mắc phải: hội chứng Antiphospholipid(APS), thiếu hụt protein S và protein C.

-  Sự kết hợp giữa yếu tố di truyền và mắc phải: đột biến gen Methylene tetrahydrofolate reductase (MTHFR) và sự thiếu hụt của Folate tự nhiên (vitamin B9) và vitamin B12. 


 
Yếu tố V Leiden là yếu tố nguy cơ phổ biến nhất gây ra hội chứng tăng đông nói chung và huyết khối tĩnh mạch nói riêng:

Trong các yếu tố rủi ro di truyền, yếu tố V Leiden là yếu tố nguy cơ phổ biến nhất gây ra hội chứng tăng đông nói chung và huyết khối tĩnh mạch nói riêng ở phụ nữ mang thai, được đặc trưng bởi phản ứng chống đông máu kém với Protein C hoạt hóa. Thuật ngữ Factor V Leiden dùng để chỉ “guanine” thay thế cho “adenine” tại nucleotide 1691 trong gen Factor V. Do sự thay thế axit amin đơn này, Factor Va kháng protein C hoạt hóa và bị bất hoạt ở tốc độ chậm hơn 10 lần so với bình thường, dẫn đến tăng sản xuất thrombin, tăng nguy cơ mắc huyết khối tĩnh mạch (thrombin là một protease serine đóng vai trò sinh lý trong việc điều hòa cầm máu và duy trì đông máu).


Yếu tố V Leiden có liên quan đến nhiều nguy cơ cho phụ nữ mang thai

Hiện nay, chẩn đoán đột biến trên yếu tố V Leiden được nghi ngờ ở những người có tiền sử huyết khối tĩnh mạch biểu hiện là huyết khối tĩnh mạch sâu hoặc thuyên tắc phổi, đặc biệt ở phụ nữ bị huyết khối tĩnh mạch khi mang thai hoặc liên quan đến biện pháp tránh thai estrogen và ở những người có tiền sử cá nhân hoặc gia đình bị huyết khối tái phát. 

-    Mặc dù khả năng mang thai thành công là rất cao, ngay cả ở phụ nữ mang đột biến đồng hợp tử, tuy nhiên, nhiều nghiên cứu hiện nay cho thấy yếu tố V Leiden có liên quan đến nguy cơ sảy thai tăng gấp 2 đến 3 lần và có thể các biến chứng khác như tiền sản giật, thai hạn chế tăng trưởng trong tử cung và vỡ nhau thai. 

-    Ngoài ra, yếu tố V Leiden dị hợp tử có liên quan đến nguy cơ thai chết lưu tăng gấp 4 lần và nguy cơ thai chết lưu do nhồi máu nhau thai tăng gấp 11 lần, nguy cơ tiền sản giật tái phát cao hơn trong lần mang thai tiếp theo. 

-    Một nghiên cứu gần đây (*) cho thấy phụ nữ mang đột biến đồng hợp tử có nguy cơ mất thai muộn cao gấp 5 lần (sau 12 tuần tuổi thai) so với phụ nữ dị hợp tử và nguy cơ cao gấp 11 lần so với phụ nữ không bị đột biến.

Nếu không được chẩn đoán và chữa trị kịp thời, có thể dẫn đến các chấn thương nghiêm trọng hoặc có thể gây tử vong, đặc biệt nguy hiểm đối với phụ nữ mang thai. Do đó, việc tiến hành xét nghiệm nhằm phát hiện đột biến tăng đông Thrombophilia trên yếu tố V Leiden là cực kỳ quan trọng và cần thiết.
 


 
(*)Tài liệu tham khảo: Jody Lynn Kujovich (2011), “Factor V Leiden thrombophilia”, Genetics in Medicine volume 13, pages 1–16 
https://www.nature.com/articles/gim920112
Lê Thị Thy Cúc – Trung tâm xét nghiệm GENTIS HCM

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