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            [title] => Distinguish 3 groups of commonly used PGT tests
            [description] => . Preimplantation Genetic Testing (PGT) is a specialized technique to identify genetic abnormalities of embryos produced by in vitro fertilization (IVF/ICSI).
            [content] => 

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

[content_more] => [meta_title] => FSH receptor gene polymorphism and response to ovarian stimulation [meta_description] => [meta_keyword] => gentis,FSH [thumbnail_alt] => [post_id] => 1069 [category_id] => 4 ) [3] => stdClass Object ( [id] => 1068 [id_crawler] => [category_product] => NULL [thumbnail] => tin-tuc/2022/t1/20200120_080155_185728_sanglocphoi.max-800x800.jpg [album] => tin-tuc/2022/t1/20200120_080155_185728_sanglocphoi.max-800x800.jpg [url_video] => [is_status] => 1 [is_featured] => 0 [is_form] => 0 [displayed_time] => 2023-03-13 [program] => 0 [number] => 1 [viewed] => 0 [type] => [type_career] => [level] => [address] => [address_career] => [expiration_time] => 0000-00-00 [created_time] => 2023-03-14 14:51:43 [updated_time] => 2023-03-14 14:51:43 [files] => [salary] => [time] => [created_by] => 63 [is_table_content] => 0 [language_code] => en [slug] => ung-dung-cua-pgtm-trong-sang-loc-benh-thalassemia [title] => Ứng dụng của PGT-M trong sàng lọc bệnh Thalassemia [description] => 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. [content] =>

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.

[content_more] => [meta_title] => Ứng dụng của PGT-M trong sàng lọc bệnh Thalassemia [meta_description] => 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%, [meta_keyword] => gentis,PGT-M,Thalassemia [thumbnail_alt] => [post_id] => 1068 [category_id] => 4 ) [4] => stdClass Object ( [id] => 1067 [id_crawler] => [category_product] => NULL [thumbnail] => hosrem_summit_2023/tb_iii_-_ivf_vn_summit_2023.jpg [album] => [url_video] => [is_status] => 1 [is_featured] => 0 [is_form] => 0 [displayed_time] => 2023-03-13 [program] => 0 [number] => 1 [viewed] => 0 [type] => [type_career] => [level] => [address] => [address_career] => [expiration_time] => 0000-00-00 [created_time] => 2023-03-13 08:33:04 [updated_time] => 2023-08-23 11:30:18 [files] => [salary] => [time] => [created_by] => 63 [is_table_content] => 0 [language_code] => en [slug] => gentis-tham-du-hoi-nghi-ivf-summit-do-hosrem-to-chuc [title] => GENTIS attends IVF Summit organized by HOSREM [description] => 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. [content] =>

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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Updating new knowledge on genetic analysis and testing services is a cross-cutting activity of GENTIS in the process of supporting partners and customers to deploy the service effectively. Accordingly, GENTIS held a presentation seminar on the topic "Pre-embryo Transfer Genetic Screening (PGT)" at Quang Ninh Obstetrics and Children's Hospital on February 28.

The seminar was attended by nearly 15 doctors and nurses from the hospital leadership, reproductive support department and laboratories. Especially, there were the presence of Deputy Director of the hospital Dr. CKII Do Duy Long, Head of IVF lab Dr. Vu Thu Hang, Head of genetics lab Dr. Ngo Kim Ngan and Head of Nursing Department of HTSS Dr. Nguyen Thi Lien and other techniques staff working in the hospital laboratory.

GENTIS Company was honored to have the participation of the Director of the Testing Center - MSc. Nguyen Quang Vinh is a direct report on PGT services and Mr. Pham Cao Khai - GENTIS test team leader helps guide how to store and send PGT samples from the hospital.

At the beginning of the report, Director Nguyen Quang Vinh shared preliminary about genetic analysis test before embryo transfer with 3 types: PGT-A, PGT-SR and PGT-M, in which the report focuses on data’s research practice at GENTIS. Currently, all babies are born with a probability of having an abnormal number of chromosomes (chromosome), structural abnormalities or having some genetic diseases.
Therefore, with the ability to analyze 24 chromosome number abnormalities of blastomeres and identify very small (>5mb) deletions/additions, the PGT test will help doctors select embryos with high quality. The best, healthy amount is transferred into the mother's uterus during IVF.

Sharing more details on this topic, Master Vinh said, the rate of chromosomal abnormalities in embryos cultured in vitro can be up to 60% and this is closely related to failed implantation and miscarriage at a high rate. Based on the data collected at GENTIS, the Director of GENTIS Center presented data with the percentage of samples with 24 chromosome abnormalities accounting for 48%, the percentage of samples with no abnormalities detected at 50% and the percentage of samples with abnormality of 24 chromosomes. Unanalyzed noise accounted for 2%.

Through research, mutations occurring on many different chromosomes (except for the case of Y chromosome) in day 3 embryos are quite similar, but this rate in day 5 embryos is quite different. Usually small chromosomes have a greater rate of abnormalities (13,15,16,18,21,22). This could be explained by the fact that embryos carrying abnormally large chromosomes have a lower growth rate to day 5.

Emphasizing at the training session, Ms. Vinh focuses on the significance and application of PGT-M test - pre-embryo transfer genetic test for single-gene diseases, indicated for couples carrying genetic abnormalities.
To date, GENTIS has performed routine PGT-M testing in hospitals and detected more than 30 genetic disease syndromes. Not only common diseases such as Thalassemia, muscular atrophy, hemophilia... but other rare and dangerous genetic diseases are also performed by GENTIS experts such as Wilson's disease, Pompe syndrome, cystic fibrosis, Fabry's disease, etc. , congenital hearing loss, congenital hypothyroidism, Smith-Lemli-Opitz syndrome, vitreous bone disease, autosomal dominant polycystic kidney...

The director of GENTIS Center also shared that, in addition to the diseases on the routine list, GENTIS can perform PGT-M for most diseases and genes, including new diseases that have not yet been performed by any unit in Vietnam. In these cases, the hospital needs to provide information about the mutation to be performed, the genetic test results in the parents first, so that GENTIS can give appropriate advice.

During the training session, Master Vinh also raised the issue of the abnormal detection range in PGT-A/SR, which can only detect microdeletions/repetitions: >5 Mb (Veriseq PGS kit, illumina) , >8 Mb (Reproseq, Thermofisher) and >7 Mb (PGSeq, PerkinElmer). That's why the research and development team of GENTIS experts should test PGT MAX 1 with higher resolution, detect deletions/repetitions as small as 2Mb and find out the causes affect embryo transfer.

Some dangerous syndromes with a cumulative rate of nearly equal to Down, Edward, and Patau syndromes such as: common genetic syndromes/diseases such as deletion 22q11.2 (Digeorge syndrome), deletion 1p36 (Loss syndrome) segment 1p36), deletion 15q11.2 (Prader Willi/Angelman syndrome).

With Veriseq PGS technology and the new generation DNA sequencing system NGS of Illumina - USA deployed at GENTIS, the PGT test has:
- High resolution with more than 3,000 data points (probes) to help screen for abnormalities of all 24 chromosomes.
- Number of reads up to 1,000,000 reads/sample. Can detect loss and add fragments > 5Mb in size.
- 99.99% sensitivity; The specificity is 99.98%.

Bluefuse analysis software identifies more than 130 syndromes associated with chromosomal deletions and deletions

At the end of the seminar, GENTIS discussed with the laboratory team of Quang Ninh Obstetrics and Children's Hospital about the issues that need to be coordinated in the embryo delivery and receipt process. Doctors at the hospital had a lively discussion about how to preserve samples, collect samples, return samples, and how to access the service to be suitable for pregnant women with multiple miscarriages and couples. Husband performed in vitro fertilization.

The GENTIS test team leader noted that the Hospital should use the kits and canisters provided by GENTIS to ensure the best biopsy quality. The kit GENTIS uses ensures anti-adhesion of cells inside the tube wall, keeping the embryo transfer medium and blastomeres always at the bottom, not on the tube wall. Units that choose GENTIS's PGT service will be supported with the most suitable tools, embryo transfer environment and embryo transfer options to ensure accuracy and time to return results to customers.

Through this update and knowledge sharing session, the doctors of Quang Ninh Obstetrics and Gynecology Hospital had more useful information about genetic screening methods before embryo transfer, screening and washing procedures and embryo transfer after embryo transfer. biopsy to perform the most accurate PGT technique for the patient. To meet the needs of hospitals in general and infertile families in particular, GENTIS will always try to develop and improve more technologies to increase the chances of a healthy and safe pregnancy for people Vietnamese.

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ISO 13485:2016 is a management system standard applied in the field of manufacturing and trading in medical instruments and supplies. With ISO 9001 as its foundation, the importance of continuous improvement is replaced by meeting statutory and customer-specific requirements, managing risk, and maintaining efficient processes, namely the design, manufacture and safe distribution of medical devices.

After more than 12 years of operation, GENTIS achieved ISO 9001:2015 certification for genetic testing and genetic analysis services in 2015, then in 2019, GENTIS achieved ISO 15189:2012 certification for services. GenEva prenatal test. And until most recently, on February 1, 2023, GENTIS was officially granted the ISO 9001: 2015 certificate at both Hanoi and Ho Chi Minh facilities after a period of rigorous assessment and inspection.

However, it does not stop there, GENTIS is very pleased to have also obtained the quality management system certification for the field of medical equipment since November 8, 2022.

All as an affirmation in maintaining the service quality as well as the reputation of GENTIS in the domestic and international markets.

As a companion in GENTIS's ISO standardization stages, Ms. Pham Thi Thuy (GENTIS Quality Management Specialist) said: “Achieving ISO 13485:2016 is proof of our satisfaction. harmonize quality management system requirements with regulatory requirements for the medical device industry. This is an important standard, a must have in the current period if GENTIS wants its products and services to be widely recognized around the world.”



Accordingly, the ISO 13485:2016 standard brings practical benefits not only to businesses but also to customers, such as:
• Activities are managed according to the system, helping to control product quality and safety
• Improve the ability to meet customer requirements. Meet national and international regulations for medical products
• Improve the efficiency of the current management system. Convenient in integration with other management systems.
In the future, GENTIS promises to constantly develop and expand in the international arena, bringing the best products, services and experiences to customers, fulfilling the mission of improving the physical and mental health of Vietnamese people.

[content_more] => [meta_title] => GENTIS is pleased to receive ISO 13485:2016 Quality Management System Certification [meta_description] => Sau chứng nhận ISO 9001:2015, GENTIS vui mừng tiếp tục đón nhận chứng chỉ hệ thống quản lý chất lượng ISO 14385:2016 vào ngày 08/11/2022. [meta_keyword] => gentis ,iso [thumbnail_alt] => [post_id] => 1064 [category_id] => 4 ) [7] => stdClass Object ( [id] => 1063 [id_crawler] => [category_product] => NULL [thumbnail] => tin-tuc/2022/t9/xet-nghiem-di-tat-thai-nhi-o-dau.jpg [album] => tin-tuc/2022/t9/xet-nghiem-di-tat-thai-nhi-o-dau.jpg [url_video] => [is_status] => 1 [is_featured] => 0 [is_form] => 0 [displayed_time] => 2023-02-24 [program] => 0 [number] => 1 [viewed] => 0 [type] => [type_career] => [level] => [address] => [address_career] => [expiration_time] => 0000-00-00 [created_time] => 2023-03-03 11:29:05 [updated_time] => 2023-03-03 11:29:05 [files] => [salary] => [time] => [created_by] => 63 [is_table_content] => 0 [language_code] => en [slug] => dich-vu-chat-luong-cao-nipt-tai-gentis-trai-nghiem-moi-cho-cac-me-bau [title] => Dịch vụ chất lượng cao NIPT tại GENTIS - Trải nghiệm mới cho các mẹ bầu [description] => Xét nghiệm sàng lọc trước sinh không xâm lấn GenEva (NIPT - Illumina) của GENTIS là xét nghiệm sàng lọc có độ chính xác cao, giúp hạn chế số thai phụ phải thực hiện các xét nghiệm xâm lấn gây nhiều rủi ro. Đây là xét nghiệm được nhiều bác sĩ sản khoa khuyến cáo các mẹ bầu nên thực hiện. [content] =>

Trên thực tế thống kê cho thấy, nước ta có khoảng 1,5-2% trẻ em sinh ra mỗi năm bị mắc dị tật bẩm sinh. Nếu không thực hiện sàng lọc trước sinh, các mẹ không thể chắc chắn rằng con mình có phát triển bình thường kể cả khi bé được hạ sinh an toàn.

Các xét nghiệm thường được nhiều thai phụ biết đến như Double test hay Triple test có độ chính xác dưới 90%, dẫn đến việc nhiều thai phụ phải chọc ối, gây nguy hiểm cho quá trình mang thai. Sản phụ có nguy cơ cao mắc các tai biến như: sảy thai, thai lưu, nhiễm trùng... sau khi bị chỉ định chọc ối. Việc làm xét nghiệm sàng lọc trước sinh là biện pháp tối ưu giúp giảm thiểu tối đa các nguy cơ kể trên.

 Xét nghiệm sàng lọc trước sinh không xâm lấn GenEva (NIPT - Illumina) là giải pháp an toàn cho các thai phụ, phương pháp này sẽ phân tích các ADN tự do trong máu mẹ ở tuần thai thứ 10 để sàng lọc một số bệnh di truyền phổ biến nhất. Trong suốt quá trình mang thai, một lượng ADN của thai nhi được giải phóng và di chuyển tự do trong máu mẹ, người ta gọi các ADN này là ADN tự do (cfDNA) là cơ sở để sàng lọc chính xác các bất thường liên quan đến NST gây nên các dị tật bẩm sinh.

Theo PGS-TS Vũ Bá Quyết - Nguyên Giám đốc bệnh viện Phụ sản Trung ương, GenEva giúp phát hiện sớm các hội chứng Down, Edwards, Patau, các bất thường nhiễm sắc thể giới tính, đột biến vi mất đoạn và các bất thường số lượng tất cả các nhiễm sắc thể còn lại. Xét nghiệm đảm bảo an toàn và cho kết quả chính xác tới 99,9%.

Cùng là những xét nghiệm không xâm lấn nhưng GenEva có độ chính xác cao hơn các phương pháp sàng lọc truyền thống như Double test, Triple test... giúp giảm thiểu nguy cơ phải thực hiện các xét nghiệm xâm lấn gây nguy hiểm cho thai kỳ. Để thực hiện phương pháp này, mẹ chỉ cần lấy 7ml máu ở tuần thai thứ 10 (theo khuyến cáo của Bộ Y tế) mang đi xét nghiệm đã có thể cho kết quả chính xác chỉ từ 4 ngày làm việc.

GenEva (NIPT - Illumina) được khuyên thực hiện cho tất cả các thai phụ ngay từ tuần thai thứ 10 của thai kỳ, đặc biệt là những thai phụ nằm trong nhóm nguy cơ cao sinh con mắc phải những hội chứng di truyền như: 

  • Phụ nữ mang thai trên 30 tuổi, đặc biệt trên 35 tuổi; 
  • Có tiền sử sinh con dị tật/ đã từng sảy thai; 
  • Các trường hợp từng bị thai lưu với mang thai dị dạng hoặc thai chết lưu không rõ nguyên nhân; 
  • Có kết quả siêu âm bất thường; 
  • Có kết quả Double test và/hoặc Triple test nguy cơ cao; 
  • Có thực hiện kỹ thuật hỗ trợ sinh sản (IVF); 
  • Mang thai đôi...

GenEva là xét nghiệm NIPT do hãng Illumina (Mỹ) chuyển giao chính thức cho GENTIS, vì thế chất lượng luôn đáp ứng các tiêu chuẩn quốc tế khắt khe như tại thị trường Mỹ. Thời gian trả kết quả chỉ từ 4 ngày với độ chính xác lên tới 99.9%. Bên cạnh đó, GenEva còn đạt được ISO 15189:2012 về quản lý chất lượng phòng xét nghiệm.
Ngoài ra, GENTIS có rất nhiều chuyên gia, bác sĩ giàu kinh nghiệm trong lĩnh vực di truyền kết hợp với các bác sĩ sản khoa uy tín trên cả nước, đội ngũ tư vấn được đào tạo chuyên sâu, nhiệt tình và tận tâm. Khi đăng ký làm xét nghiệm sàng lọc trước sinh GenEva tại GENTIS, mẹ bầu sẽ được trải nghiệm dịch vụ chuyên nghiệp, tiện ích như:

  • Đăng ký lấy máu xét nghiệm NIPT ngay tại nhà, giúp mẹ hoàn toàn an tâm, tránh rủi ro và tiết kiệm được chi phí.
  • Chủ động đăng ký xét nghiệm với thao tác dễ dàng qua tổng đài miễn phí 1800 2010.
  • Mẹ bầu thoải mái lựa chọn thời gian xét nghiệm, phù hợp với lịch cá nhân của mẹ bởi Trung tâm làm việc tất cả các ngày trong tuần.

Cha mẹ hãy thực hiện xét nghiệm sàng lọc trước sinh GenEva (NIPT - Illumina) cho bé ngay từ trong bụng mẹ để có thể an tâm và mang lại cho bé yêu sự khởi đầu trọn vẹn nhé !

[content_more] => [meta_title] => Dịch vụ chất lượng cao NIPT tại GENTIS - Trải nghiệm mới cho các mẹ bầu [meta_description] => Xét nghiệm sàng lọc trước sinh không xâm lấn GenEva (NIPT - Illumina) của GENTIS là xét nghiệm sàng lọc có độ chính xác cao, giúp hạn chế số thai phụ phải thực hiện các xét nghiệm xâm lấn gây nhiều rủi ro. Đây là xét nghiệm được nhiều bác sĩ sản khoa khuy [meta_keyword] => gentis,nipt [thumbnail_alt] => [post_id] => 1063 [category_id] => 4 ) )

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.

GENTIS provides intensive training in PGT techniques at Quang Ninh Obstetrics and Gynecology Hospital

On February 28, at Quang Ninh Obstetrics and Gynecology Hospital, GENTIS company held a seminar to train and update information on genetic analysis techniques before PGT embryo transfer for the team of doctors at the Hospital assisted reproduction department.

GENTIS is pleased to receive ISO 13485:2016 Quality Management System Certification

After the ISO 9001:2015 certification, GENTIS is pleased to continue to receive the ISO 14385:2016 quality management system certificate on November 8, 2022.

Dịch vụ chất lượng cao NIPT tại GENTIS - Trải nghiệm mới cho các mẹ bầu

Xét nghiệm sàng lọc trước sinh không xâm lấn GenEva (NIPT - Illumina) của GENTIS là xét nghiệm sàng lọc có độ chính xác cao, giúp hạn chế số thai phụ phải thực hiện các xét nghiệm xâm lấn gây nhiều rủi ro. Đây là xét nghiệm được nhiều bác sĩ sản khoa khuyến cáo các mẹ bầu nên thực hiện.
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