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[title] => Explain the cause of false positive results in NIPT test
[description] => Cases of discrepancy between NIPT results and diagnosis, although few, have been reported by many research groups. Among them, a more common case is the false-positive NIPT result. Learn more about what causes false-positive results in the NIPT test below.
[content] => False POSITIVE IN NIPT TEST
Non-invasive prenatal screening test (NIPT) helps to screen for common fetal malformations through the analysis of fetal cfDNA released into the mother's blood with high accuracy and absolute safety. Figure 1). The NIPT test has been shown to be clinically effective with more than 99% accuracy, as evidenced by the increasing use of NIPT over the past decade and has become an indispensable prenatal screening test in clinical practice in many countries around the world.
The advent and rapid advancement of next-generation sequencing (NGS) technologies have increased the accuracy of the method. However, NIPT remains a screening test, and if the results are high-risk, confirm the results with an invasive diagnostic test. There are many factors that affect the accuracy of the NIPT test, including biological factors.
Cases of discrepancy between NIPT results and diagnosis, although few, have been reported by many research groups. Among them, a more common case is the false-positive NIPT result. Based on multiple meta-analyses, reported false positive rates range from 0.04% to 0.06% for trisomy 21, 18, and 13. Factors causing false positives in the NIPT test are known to be: placental mosaicism, abortive twin pregnancy, maternal malignancy, and maternal chromosomal mosaicism.
CAUSE OF False POSITIVE RESULTS IN NIPT TEST
1. Placenta mosaic
Mosaic is the presence of two or more cell lines with different sets of chromosomes in the same individual. Mosaic phenomenon accounts for about 1-2% in natural pregnancies and according to incomplete statistics, is higher in cases of assisted reproduction. However, mosaic accounts for up to 20% of cases where NIPT results and invasive diagnostic results are inconsistent.
In the case of placental mosaicism, also known as localized placental mosaicism, the placenta appears many abnormal cell lines with different chromosomes, while the fetus has a completely normal set of chromosomes. At this time, the NIPT test based on the analysis of cfDNA released from the placenta will give a positive NIPT result, but in fact the fetus is completely healthy. In this case, mosaic caused a false-positive NIPT result.
Reports have also highlighted a few cases of placental mosaicism that resulted in false-positive NIPT results. In the study of Agnese et al in 2022, the research team reported a case of a pregnant woman at 15 + 3 days of gestation who was advised to perform NIPT test, NIPT results showed a high risk of T21 with z-score. is 16.21.
To confirm a positive NIPT result, at 19 + 2 days of gestation, the pregnant woman conducts amniocentesis to perform QF-PCR and karyotype, the results do not detect abnormalities on chromosome 21. With this result, the pregnant woman was carefully consulted and explained by the doctor about the discrepancy between the NIPT results and the amniocentesis results.
2. Disappeared Twins
Dissolution of twins (VT), first described in 1976, is the disappearance of the embryo or gestational sac following fetal cardiac activity that has been observed in both fetuses in a twin pregnancy. The incidence of VT has been shown to range from 10% to 39% in IVF pregnancies, while the rate of spontaneous pregnancy VT is still unclear. Cases of VT have been reported to be associated with adverse perinatal outcomes as well as an increased incidence of fetal malformations.
The presence of VT can affect NIPT test results, studies have shown that cfDNA from aborted twins can still be present in the mother's plasma at least 8 weeks after the termination of pregnancy and possibly up to 15 weeks (Figure 2). We know that chromosomal abnormalities are a major cause of miscarriage, and trisomy can be the cause of VT, which in turn can lead to false-positive NIPT results.
A recent study suggested that pregnant patients with VT should have a NIPT test 8 weeks after detection of VT. The study showed that, because the fetal fraction (FF) of VT was significantly reduced during these weeks and no longer affected NIPT results. However, this cannot be achieved when a woman's first obstetrician visit is too late to confirm pregnancy, a few weeks after the signs of twin pregnancy have disappeared. Therefore, it is recommended that pregnant women see their first obstetrician as soon as possible.
3. Malignancy in the mother
Maternal malignancy is relatively rare during pregnancy, with an incidence of 1 in 1000 pregnancies. In particular, according to statistics, breast cancer, liver cancer, lymphoma and stomach cancer are the most common cancers in pregnant women.
Studies have shown that underlying malignancies in the mother may provide a biological explanation for some of the contradictory NIPT results. Because cfDNA is released into the maternal circulation from programmed cell death (Figure 3).
These cfDNAs made the total maternal cfDNA increase, when the software compares with the reference sample and reads the results, it will easily give the NIPT result erroneous. If the mother's malignancy is not confirmed detected before pregnancy, this would be a contributing factor to false-positive NIPT results. In addition, there are also a few studies that report maternal malignancy through NIPT testing. Because one theory is that, when the risk of birth defects in the fetus is increased, there is a potential risk due to the occurrence of malignancy in the mother.
4. Mosaic chromosome in mother
Like maternal malignancy, maternal chromosomal mosaicism is also a factor in false-positive NIPT results with a similar principle. Maternal mosaicism can increase the amount of cfDNA in abnormal cells and in total cfDNA circulating in the maternal blood. If the mother's condition is not detected before pregnancy, the results may mistake the abnormality for the fetus.
Some recommendations are given to overcome this situation that pregnant women should be thoroughly examined before pregnancy as well as sharing about current medical conditions, family history is extremely important to Pregnancy management is carried out in the most favorable way.
Besides biological factors affecting NIPT test results, technical factors such as the technology platform used are also a factor affecting the accuracy of the test. Next-Generation Sequencing (NGS) technology on the NextSeq 550 sequencer system from Illumina, USA is a proven technology platform with more than 99% accuracy, less than 0.1% failure rate.
The data provided by Illumina suppliers is made on a large clinical database, and this is also a technology platform that is voted by the worldwide community of scientists as the technology company used in the field. Scientific research, development of tests in the field of molecular biology the most.
GENTIS is a genetic analysis unit in Vietnam that uses Illumina technology for NIPT testing. In addition, the GENTIS R&D team has successfully developed an advanced bioinformatics software that optimizes the readability of the results, thereby improving the accuracy of the NIPT test.
Although the NIPT test, although highly accurate, is still a screening test, factors that can lead to biased results have also been presented and reported. This again emphasizes the importance of more careful ultrasound and pregnancy monitoring to limit unwanted outcomes. Through the article, we hope that we have provided useful information to clinicians, thereby helping doctors have more timely and appropriate advice and indications for pregnant women.
References:
[1] van der Meij K. R. M., Sistermans E. A., Macville M. V. E., Stevens S. J. C., Bax C. J., Bekker M. N., et al. (2019). TRIDENT-2: National implementation of genome-wide non-invasive prenatal testing as a first-tier screening test in The Netherlands. Am. J. Hum. Genet. 105, 1091–1101. 10.1016/j.ajhg.2019.10.005
[2] Kleinfinger, Pascale et al. “Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin.” Genes vol. 13,11 2027. 3 Nov. 2022, doi:10.3390/genes13112027
[3] Gug, Cristina et al. “Genetic Counseling and Management: The First Study to Report NIPT Findings in a Romanian Population.” Medicina (Kaunas, Lithuania) vol. 58,1 79. 5 Jan. 2022, doi:10.3390/medicina58010079
[4] Lenaerts, Liesbeth et al. “Noninvasive Prenatal Testing and Detection of Occult Maternal Malignancies.” Clinical chemistry vol. 65,12 (2019): 1484-1486. doi:10.1373/clinchem.2019.306548
[5] Snyder MW, Simmons LE, Kitzman JO, et al. Copy-number variation and false positive prenatal aneuploidy screening results. N Engl J Med 2015; 372:1639–45
[6] Grömminger, Sebastian et al. “Fetal Aneuploidy Detection by Cell-Free DNA Sequencing for Multiple Pregnancies and Quality Issues with Vanishing Twins.” Journal of clinical medicine vol. 3,3 679-92. 25 Jun. 2014, doi:10.3390/jcm3030679
[7] Grati, F R. “Implications of fetoplacental mosaicism on cell-free DNA testing: a review of a common biological phenomenon.” Ultrasound in obstetrics & gynecology: the official journal of the International Society of Ultrasound in Obstetrics and Gynecology vol. 48,4 (2016): 415-423. doi:10.1002/uog.15975
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[title] => Service update seminar at Tan Dan General Hospital
[description] => On February 10, Tan Dan General Hospital and GENTIS Company jointly organized a training seminar to update new services for doctors and nurses on tests in the field of Obstetrics and Gynecology.
[content] => The seminar to update information on testing services is a regular activity that GENTIS is implementing with partners and customers. Continuing the series of activities, on February 10, GENTIS held a seminar at Tan Dan General Hospital with the participation of nearly 20 doctors and nurses working at the hospital.
During the workshop, reporter Le Thi Hong Nhung gave a detailed introduction to the non-invasive prenatal screening test (NIPT) at GENTIS. Thereby, Ms. Nhung said that NIPT began to be put into clinical application in fetal malformation screening since 2011. NIPT can screen and detect many congenital malformation syndromes and provide accurate information of health status of the fetus. This method is done quickly and easily with results with more than 99% accuracy. In addition, pregnant women do not need to perform amniocentesis but only need to take 7ml of venous blood, which helps reduce the rate of miscarriage, amniotic infection or infectious diseases caused by amniocentesis. The NIPT testing process at Gentis has been accredited to ISO 15189:2012 by the BOA Quality Management Department, which is the standard that specifies the quality and capacity requirements for medical laboratories.
Ms. Nhung also recommends that the only subjects to perform NIPT test are pregnant women in the first 3 months of pregnancy and the second 3 months of pregnancy, especially high-risk subjects such as over 35 years old, with birth results. High-risk chemotherapy and ultrasound, history of malformed pregnancy or unexplained stillbirth, family history of genetic disease, etc.
In addition, reporter Le Thi Hong Nhung also introduced an overview of the mechanism of action and clinical application in Thalassemia test. Thalassemia is a genetic blood disease with a very high incidence in the world and in Vietnam, affecting the race because of its recessive genetic nature. Currently there are more than 20,000 people with Thalassemia requiring lifelong treatment and each year about 8,000 more children are born with Thalassemia, of which about 2,000 children have severe disease and about 800 children cannot be born due to edema. pregnant. Currently, in Vietnam and the world, there is no testing unit that can confirm 100% detection of all genes that cause Thalassemia disease, Ms. Nhung said. But at GENTIS alone, the disease detection rate is very reliable, up to 99.9%, but there is still a small percentage of rare genes that have not been detected. However, the detection rate of 99.9% can be said to be a high number and the coverage is also very wide.
In addition, reporter Tran Thi Quynh Trang reported in detail on newborn screening tests and HPV cervical cancer tests. According to recent statistics from WHO, more than 8 million babies have birth defects right after birth, Ms. Trang said. Therefore, the most effective solution for early detection of these malformations is to perform newborn screening. This is a very important test method in the early stages of a child's life. Through screening results, we can detect potential defects or diseases early for timely treatment. Ms. Trang shared that 48 hours after birth is the best time to conduct screening. The test sample is blood taken from the heel so it will not cause pain to the child. Performing newborn screening can detect many diseases such as G6PD deficiency, adrenal hyperplasia, congenital hypothyroidism, ...
Cervical cancer was also shared by reporter Trang in detail during the workshop. Ms. Trang said that cervical cancer is a very common disease, in the world it is the third most common cancer in women and is common in developing countries. More than 90% of cervical cancer cases are related to HPV. HPV infection can cause many cancers such as vulvar, vaginal, penile, anal, oropharyngeal cancers, especially cervical cancer. To screen for cervical cancer most effectively, it is necessary to combine two methods: PAP (E-Prep) and HPV-DNA. Specifically:
- For the Pap test (E - Prep), the sample is checked for the presence of abnormal cells.
• For the HPV-DNA test, the sample is checked for the presence of HPV strains.
Due to their specific tasks, these two methods are not interchangeable, they complement each other to help doctors diagnose and provide appropriate treatment for each individual patient.
At the end of the seminar, reporter Nhung and reporter Trang shared more about the support directions for the Hospital when approaching testing to customers. The seminar was very lively and many opinions were raised. After the service report of GENTIS to Tan Dan General Hospital, we hope that the doctors and nurses will provide customers with many tests that are useful to their health status and contribute to raising awareness of health care. of the Vietnamese people.
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With the desire to cooperate and develop in-depth research on many new services, GENTIS Company has organized a sharing session with Hanoi Nam Hoc and Rarely Hospital. The report session was attended by more than 25 doctors and nurses from the leadership board, deputy head of department and doctors working at the Hospital. Especially on the GENTIS side, there were the participation of Dr. - R&D Director Pham Dinh Minh, Director of Testing Center Nguyen Quang Vinh and members of the department.
At the exchange, Dr. Pham Dinh Minh had a detailed report on new tests that are currently being researched, developed and of great significance in assisted reproduction, including:
• Project 1: Test to detect FSH gene variant that causes underresponsiveness and overstimulation of ovarian response
• Project 2: Research on combining genetic analysis of culture environment and morphology in embryo quality assessment
• Project 3: Rare disease PGT-M test kits to detect single gene disease (13 pathological genes)
• Project 4: Transfer of mosaic embryos
• Project 5: Fertiscan, screening, detection of genetic abnormalities causing male/female VSHM, and embryonic development block”
Through the report, the doctors of Hanoi Hospital of Andrology and Infertility have gained information, research directions, and implementation of new projects in 2023.
Doctors at the hospital had a lively discussion about the useful tests that are about to be implemented and how to access the service to suit the patient's infertility treatment. In addition, suggestions and opinions have been contributed to help GENTIS's test expand and develop in a way that is more suitable to the needs of patients.
After the scientific session, GENTIS and Hanoi Hospital of Andrology have come up with many useful cooperation proposals to jointly research and develop the application of high-tech testing in clinical practice. ready to contribute to the diagnosis and treatment of infertility and infertility today.
The seminar is an opportunity to exchange expertise that is highly appreciated by doctors, helping the research, cooperation and actual treatment of patients to soon achieve great progress, helping infertile cases. shorten the time with the most accurate treatment direction.
ISO 9001:2015 is the latest international version of quality management system control standards developed and published by ISO on September 24, 2015. This standard is used for the evaluation of the quality management system of enterprises, applied in the process of creating and controlling the products and services provided by enterprises; It also prescribes systematic control of activities to ensure that customer needs and expectations are met.
GENTIS is an ISO 9001:2015 certified unit since 2015 for genetic testing and genetic analysis services. After operating the business, the company has always maintained the quality of the management system and continued to be certified with ISO 9001: 2015 at both facilities in Hanoi and Ho Chi Minh City.
Accordingly, the Company has been assessed in accordance with the requirements of ISO 9001: 2015 by completing the management processes set out after many rigorous tests and assessments. The assessment results show that the current GENTIS quality management system fully meets the criteria of ISO 9001:2015. At the same time, the processes are built completely in accordance with the development orientation as well as the quality policy of the GENTIS Board of Directors.
As a companion in the recent ISO 9001:2015 assessment, Ms. Pham Thi Thuy (GENTIS Quality Management Specialist) emphasized:
“Under the direction of the leadership, GENTIS always upholds the quality management system and is the core factor to help the unit develop sustainably as it is today. In order to achieve achievements in the field of genetic analysis and ISO international standards, each GENTIS employee has worked together in accordance with the correct process, increasingly effectively implementing quality management, so that bring better services to customers”.
Continuing to meet ISO 9001:2015 through rigorous evaluations means that businesses always need to improve their quality management systems. This will be an opportunity for GENTIS to regularly check and review service quality and strategically align with the company's laboratory management system and service quality.
Therefore, ISO 9001: 2015 brings practical benefits not only to businesses but also to customers, such as:
• Oriented to a strict, no-frills management system; operate quickly, efficiently and with minimal errors;
• Increased ability to consistently provide products and services that meet applicable statutory and regulatory requirements;
• Manage risks and have appropriate solutions, well implement the objectives set by the enterprise;
• Improve satisfaction and focus on meeting customer requirements when using products and services;
• Increasing prestige for partners and customers in domestic and foreign business markets
• Develop a more professional company culture by building a target system and analyzing the performance results of employees, thereby helping to increase productivity and work efficiency.
Not only stop at ISO 9001:2015; ISO 15189:2012, GENTIS will constantly strive to achieve the larger goals of the laboratory and service quality management system. That is the guideline on the journey to improve the quality and reach the international level of GENTIS company, contributing to improving the physical and mental health of Vietnamese people in the near future.
Khi mang thai, máu mẹ bầu có chứa hỗn hợp DNA tự do (cfDNA). Các cfDNA này đến từ tế bào của mẹ và tế bào từ nhau thai. (Nhau thai là mô trong tử cung liên kết với thai nhi và nguồn cung cấp máu mẹ. Những tế bào này được đổ vào dòng máu mẹ trong suốt thai kỳ. DNA trong các tế bào nhau thai thường giống hệt với DNA của thai nhi.)
Xét nghiệm NIPT phân tích các đoạn DNA nhỏ này để tìm kiếm các rối loạn nhiễm sắc thể. Gây ra bởi sự thừa hoặc thiếu (aneuploidy) một bản sao của nhiễm sắc thể.
NIPT chủ yếu tìm kiếm hội chứng Down (trisomy 21, gây ra bởi một thêm nhiễm sắc thể 21), trisomy 18 (gây ra bởi thêm một nhiễm sắc thể 18), trisomy 13 (gây ra bởi thêm một nhiễm sắc thể 13) và các thay đổi của nhiễm sắc thể giới tính. Độ chính xác của xét nghiệm thay đổi tùy theo rối loạn.
NIPT được coi là không xâm lấn vì nó chỉ cần lấy máu từ người phụ nữ mang thai và không gây nguy hiểm cho thai nhi. NIPT là một xét nghiệm sàng lọc, có nghĩa là NIPT sẽ không đưa ra câu trả lời khẳng định về việc thai nhi có bị bệnh di truyền hay không. Trong một số trường hợp, kết quả NIPT cho thấy tăng nguy cơ bất thường di truyền khi thai nhi thực sự không bị ảnh hưởng (dương tính giả) hoặc kết quả cho thấy giảm nguy cơ bất thường di truyền khi thai nhi thực sự bị ảnh hưởng (âm tính giả). Vì NIPT phân tích cả cfDNA của thai nhi và mẹ, nên xét nghiệm có thể phát hiện ra tình trạng di truyền ở người mẹ.
Hiện nay tại GENTIS, xét nghiệm sàng lọc trước sinh (GenEva - NIPT) kết hợp giải trình tự thế hệ mới và phần mềm phân tích độc quyền có khả năng phát hiện ra bất thường của thai nhi ngay cả trong trường hợp lượng DNA tự do của thai nhi trong máu người mẹ ở mức thấp (>1,4%). Điều này dẫn đến tỷ lệ thất bại kỹ thuật thấp nhất (0.1%) và loại bỏ thử nghiệm xâm lấn không cần thiết như các xét nghiệm khác.
Đảm bảo các yếu tố quyết định chất lượng xét nghiệm bao gồm:
- Công nghệ: Hệ thống giải trình tự gen thế hệ mới NextSeq 550 của Illumina - Mỹ.
- Chuyên gia: Chuyên gia tư vấn di truyền là PGS.TS di truyền sản khoa uy tín, đồng hành với bệnh nhân trong suốt thai kỳ.
- Trung tâm xét nghiệm: Thực hiện tại phòng xét nghiệm đạt chuẩn quốc tế tại Việt Nam. Chất lượng được giám sát chặt chẽ, đảm bảo tương đương phòng xét nghiệm tại Mỹ. Hạn chế được nhiều rủi ro sai sót khi gửi mẫu ra nước ngoài, có kết quả nhanh chóng…
- Tiêu chuẩn quốc tế: Tại GENTIS được văn phòng công nhật chất lượng - BOA việt nam chứng nhận phù hợp với tiêu chuẩn ISO 15189:2012. (http://www.boa.gov.vn/vi/phong-xet-nghiem-quoc-te-gentis). Theo quyết định số 3148/QĐ-BYTT, Điều kiện để các Phòng xét nghiệm (PXN) được liên thông công nhận kết quả là các PXN phải được đánh giá theo bộ “Tiêu chí đánh giá mức chất lượng phòng xét nghiệm Y học” và đạt chất lượng từ mức 01 trở lên hoặc các PXN đạt chứng nhận ISO 15189:2012.
- Xét nghiệm có độ chính xác >99%
- Thời gian trả kết quả nhanh chóng chỉ từ 7 ngày.
- Hỗ trợ bảo hiểm lên tới 300 triệu đồng.
- Sàng lọc được nhiều hội chứng di truyền thường gặp và bất thường số lượng tất cả các nhiễm sắc thể còn lại.
GenEVA - “chìa khóa” để giải mã dị tật thai nhi từ lúc tuổi thai còn rất nhỏ.
[content_more] => [meta_title] => Cơ sở khoa học của xét nghiệm NIPT [meta_description] => Xét nghiệm trước sinh không xâm lấn (NIPT – Non-Invasive prenatal testing), còn gọi là sàng lọc trước sinh không xâm lấn (tiếng anh là Noninvasive Prenatal Screening – NIPS ), là phương pháp xác định nguy cơ thai nhi có mắc bất thường di truyền nhất định [meta_keyword] => gentis,nipt [thumbnail_alt] => [post_id] => 1049 [category_id] => 4 ) [5] => stdClass Object ( [id] => 1048 [id_crawler] => [category_product] => NULL [thumbnail] => tin-tuc/2022/t1/_mg_892334444.jpg [album] => tin-tuc/2022/t1/_mg_892334444.jpg [url_video] => [is_status] => 1 [is_featured] => 0 [is_form] => 0 [displayed_time] => 2023-01-30 [program] => 0 [number] => 1 [viewed] => 0 [type] => [type_career] => [level] => [address] => [address_career] => [expiration_time] => 0000-00-00 [created_time] => 2023-01-13 15:57:26 [updated_time] => 2023-08-23 15:30:52 [files] => [salary] => [time] => [created_by] => 63 [is_table_content] => 0 [language_code] => en [slug] => toa-dam-toi-uu-hoa-trong-dieu-tri-vo-sinh-nu-ket-hop-quan-ly-thai-ivf-do-gentis-bvdk-hn-to-chuc [title] => Seminar "Optimization in female infertility treatment combined with IVF pregnancy management" organized by GENTIS & Hanoi General Hospital [description] => On December 27, GENTIS collaborated with Hanoi General Hospital - IVF Reproductive Support Center to organize a medical seminar "Optimizing female infertility treatment, increasing the success rate - the outcome." management of IVF pregnancy”. [content] =>
An alarming fact is that the rate of female infertility is gradually rejuvenating and increasing, many women worry that they do not know the cause of infertility, how it manifests, the methods of infertility treatment, the time of infertility. When is the golden point to examine and treat infertility and infertility?
Not only that, the pregnancy journey is a challenging and arduous journey. For pregnant mothers with in vitro fertilization (IVF), the journey is even more difficult. IVF pregnancy management plays an extremely important role, from the time the embryo is formed, transferred to the mother's uterus until the baby is born safely, healthy and limiting unwanted problems. may occur such as miscarriage, fetal growth arrest, premature birth, haemorrhage, etc. to the mother; low birth weight, malnutrition, fetal malformations, jaundice, infections, respiratory failure, etc. for children.
Understanding that, Hanoi General Hospital cooperated with GENTIS to organize a seminar: "Optimizing female infertility treatment - Increasing the success rate combined with IVF pregnancy management" for customers to have More information, awareness about female infertility treatment and IVF pregnancy management.
This seminar has the participation of two speakers who are two leading experts in the field of reproductive support and obstetrics and gynecology:
- Master, Doctor Nguyen Thi Thu - Head of Hanoi Center for Infertility and Sex Medicine.
- Associate Professor, Dr. Vu Ba Quyet - Former Director of the National Hospital of Obstetrics and Gynecology, Standing Vice Chairman of the Executive Committee of the Vietnam Association of Obstetrics and Gynecology, the title of People's Doctor, Labor Medal III and Class 3 II, member of the Gentis Scientific Council.
During the seminar with all customers, the couples listened to Dr. Nguyen Thi Thu share about the issues related to the concept, causes of female infertility, as well as the optimal solution, the timing of female infertility. gold during IVF.
As for Assoc. Prof. Dr. Vu Ba Quyet, he shared about potential risks and notes during IVF pregnancy. In addition, the program also had the presence of a couple who successfully performed IVF right from the first time of embryo transfer, Ms. Thu's family was very touched and sent special thanks to the doctors at the hospital. Hanoi General Hospital. Happiness burst on their faces after holding their first child in the arms of their first child after 9 years of marriage.
The seminar was successfully held with the enthusiastic response of infertile couples. In the near future, GENTIS & IVF Hanoi will organize more medical seminars with the aim of providing useful knowledge to infertile couples; At the same time, we bring preferential gift programs to customers, supporting you in your journey to find your baby.
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Andrology is still a hot topic today for clinicians as well as infertile couples because the impact of male infertility on male reproductive health accounts for 40-50%. After many online broadcasts on the topic of male infertility, GENTIS has received a lot of positive feedback and responses from the audience.
Following this series of successes, GENTIS is pleased to discuss with a leading expert and many years of clinical practical experience in andrology, that is: MSc Duong Quang Huy - Specialist in Andrology & Infertility Ho Chi Minh City with the topic "WARNING CAUSE OF Male Infertility - Loss of AZF segment".
According to Dr. Huy at the seminar, the current situation of infertility in Vietnamese families is increasing, accounting for about 10-12% of couples of reproductive age (According to Dr. Ministry of Health). In particular, Following this series of successes, GENTIS is pleased to discuss with a leading expert and many years of clinical practical experience in andrology, that is: MSc Duong Quang Huy - Specialist in Andrology & Infertility Ho Chi Minh City with the topic "WARNING CAUSE OF Male Infertility - Loss of AZF segment".male infertility accounts for up to 40% and there are many causes for it.
Besides a number of causes such as high heat work factors, radiation…; environmental factors; having male diseases…, genetic factors causing azoospermia or azoospermia is one of the most common causes.
Male infertility specialist said that until now, almost all male infertility cases were ordered to carry out chromosomal (chromosomal) related tests. However, in some cases, the chromosomal mutation causes the loss of a small gene on the Y chromosome, making it undetectable by conventional methods. Then we will need to perform AZF gene testing to detect mutations in the Y chromosome, find out where the deletion is on the Y chromosome or whether there is a repeat or an inversion.
THE STATUS AND IMPACT OF AZF on male reproduction
AZF stands for Azoospermia Factor and this region contains many genes involved in spermatogenesis. Deleting mutations occurring in the AZF region often lead to consequences with varying degrees of impact, such as azoospermia, oligospermia, severe oligospermia, disorders in spermatogenesis, or sperm abnormalities. .
According to Dr. Huy, the AZF mutation accounts for 1/2000-3000 in the world population and accounts for a very large proportion of over 7% for male infertility patients who have a semen analysis without sperm. There are four types of AZF deletions, and the effects of each deletion cause different mutations and abnormalities.
AZFa region: A complete deletion in the AZFa region means that sperm cannot be retrieved from the testes for ICSI.
Experts shared that AZFa deletion is quite rare, surgery will not find sperm in this case. Since there is no chance of having a baby from his own sperm, male patients should perform a sperm request for IVF.
AZFb region: Partial deletion of the AZFb region is associated with abnormalities in spermatogenesis. Small deletions in the AZFb region with seminal spermatogenesis (SGA) phenotype
According to Dr. Huy, there are 10-15% of cases of AZFb deletion with poor sperm production, depending on the examination case, it is advisable not to intervene to find sperm to do IVF.
AZFc region: AZFc deletion can show a relatively diverse phenotype, ranging from normal sperm levels, oligospermia, severe oligospermia or azoospermia.
• The highest incidence of AZFc deletion, about 85% as shared by Dr. Huy. Clinical manifestations of AZFc deletion include azoospermia, motility, or less than normal sperm count.
• In men with azoospermia due to AZFc deletion, about 70% still have a chance to find sperm using TESE technique and be able to give birth using ICSI method.
• Loss of AZFc segment alone should only be treated to obtain sperm until eligible for assisted reproductive technology, medical treatment to the extent that natural pregnancy can be achieved without assisted reproduction is ineffective.
AZFd region: This region has a higher rate of deletion mutations than other regions in patients with infertility due to azoospermia or severe oligospermia with abnormal sperm morphology. Therefore, identifying AZFd deletion also means that men in a state of infertility are not severe, the treatment is better than AZFa, AZFb and AZFc deletion, but most still need fertility support.
AZF EXAMINATION PROCEDURE AND INSTRUCTIONS
Discussing at the seminar, Doctor Duong Quang Huy emphasized the need to learn the medical history of men and directly examine the male genitals in the male infertility examination process. For the cases of semen analysis without sperm, testicle size is smaller than normal, FSH is significantly increased, testosterone is decreased, etc., it is necessary to specify more in-depth genetic tests.
According to the World Health Organization (WHO), according to the European and American Association of Urology, the AZF test should be performed for men with a sperm concentration of less than 15 million sperm/ml, accompanied by clinical symptoms examination as above.
In some cases, if a man has been examined and determined to have another condition such as sperm blockage, he may not need an AZF test. The doctor also noted with male patients, if AZFc is not detected early, from low sperm count, it can lead to azoospermia and can no longer take sperm for IVF.
To evaluate the significance and importance of performing the test always requires research and scientific evidence. The male and female expert shared that, since 1992, the researches on AZF were first published and received much controversy. To date, there have been more than 900 studies on how AZF affects men, how it affects conception, how it affects men's lives, is it inherited to the next generation... Some typical examples research on AZF such as:
- M.B. Shamsi et al (2011), “Genetic and epigenetic factors: Role in male infertility”
- Vollrath, Foote D, Hilton S et al (1992). The human Y chromosome: A 43-interval map based on naturally occurring deletions. Science, 258, 52-59
- Liu XG et al (2016), “Correlation between Y chromosome microdeletion and male infertility”
Thanks to these worldwide studies, in Vietnam in recent years, fertility doctors and gynecologists have had a more accurate view of the effects of AZF, thereby planning diagnosis and treatment. the right direction for the patient.
Doctor Duong Quang Huy further emphasized that analysis of AZF deletion cannot use the usual Karyotype method because it can only evaluate the number and structure of chromosomes, it is necessary to use PCR method. to amplify the male DNA, combining the use of primers (kit test) and electrophoresis to detect AZF deletions on the Y chromosome. Dr. Huy noted the importance of the test procedure. Labs need to follow the regulations and choose the right primer test kit to avoid false positives/negatives.
Sharing at the end of the seminar, Dr. Huy highly appreciated GENTIS in the implementation of the male test kit in general and the AZF test in particular. “In my opinion, GENTIS's AZF result sheet has reached all the required index thresholds for doctors to give directions for indications, diagnosis and treatment of patients. When implementing the expanded AZF test package, there will be more comprehensive and comprehensive result index thresholds. In addition, GENTIS result information is carefully sent back to the email to the doctor and the patient.”
GENTIS Company is proud to be the unit that develops a full and complete set of male tests for more than 30 fertility support units across the country. Compared to other units, GENTIS has always proven to be different and superior in technology and ensures the accuracy of AZF tests. By PCR technique to amplify specific DNA fragment combined with capillary electrophoresis system, AZF test results at GENTIS ensure adequate index threshold with AZFa, AZFb, AZFc, AZFd regions.
Hopefully, with the test that GENTIS deploys with male infertility patients, doctors will have a better direction to diagnose and treat the disease, and soon bring happiness to the infertile family. The useful information that Ths.BS Duong Quang Huy shared in the program "You ask - Expert answers" this time has contributed to providing knowledge about male infertility and loss of AZF segment to men. and infertile families. GENTIS promises to continue to bring more programs to serve doctors and customers.
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With the desire to bring the most useful and general information to couples performing IVF treatment, IVF Center - Hai Phong International Hospital for Obstetrics and Children (HP Fertility) organized a reproductive health consultation workshop on the occasion: 02 years of accompanying infertile couples on December 17.
Many statistics have shown that men also have a significant rate of infertility (about 40%). The main gynecological tests are therefore highly appreciated by medical professionals in the process of finding the cause and treatment of infertility for couples.
Many current studies show that the most common causes of male infertility are genes and chromosomes, in which about 10-15% of azoospermia cases and 5% of oligospermia have genetic abnormalities.
In addition, there are many genetic causes of male infertility, in which the lack of sperm in sufficient quantity and quality is the leading factor causing difficulty in conceiving.
Therefore, with the desire to bring the most overview of male infertility, at the Conference, Ms. Nguyen Quang Vinh - Director of Gentis Testing Center has shared in detail about the current situation of male infertility and the full set of GENTIS male tests including:
• Immunochemistry
• Karyotype
• The micro mutation loses the AZF . segment
• Sperm DNA fragmentation
• Mutation in the CFTR gene
• Anti-sperm antibodies (ASA - Antisperm Antibody)
• Sperm aneuploidy (SAA)
• Sexually Transmitted Agents (STDs)
In addition, there are answers to questions directly from BSCKI Nguyen Duc Thuan (Head of HP Fertility Fertility Center, Hai Phong Obstetrics and Gynecology Hospital) in the article "Common causes of infertility in women" and from "Xu" new direction in improving the quality of transferred embryos” of MSc. Dang Truong Son (Head of HP Fertility IVF Lab, Hai Phong Obstetrics and Gynecology Hospital)
Through the Workshop, GENTIS believes that couples doing IVF have the most insight into the common causes of infertility, receive answers and advice on the journey to finding a child, and can also develop a plan of examination and treatment appropriate to each of their conditions.
Also at the seminar, GENTIS and doctors at Hai Phong Obstetrics and Gynecology Hospital presented gifts, prizes, vouchers worth up to 400,000,000 million VND to lucky couples participating in the game. Lucky Draw.
Pioneering in the field of genetic analysis in Vietnam, GENTIS will always make breakthrough efforts and research to bring new solutions and tests to contribute to improving the success rate in Assisted Reproductive Medicine!
GENTIS would like to congratulate the Fertility Support Seminar 2022 - Hai Phong International Obstetrics and Pediatrics Hospital on a great success.
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Cơ sở khoa học của xét nghiệm NIPT
Seminar "Optimization in female infertility treatment combined with IVF pregnancy management" organized by GENTIS & Hanoi General Hospital
Warning causes of male infertility - AZF deletion
GENTIS attended the Assisted Reproductive Workshop at Hai Phong Obstetrics and Gynecology Hospital
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