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

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

Kỹ thuật PGT-M (hay còn gọi là Preimplantation genetic diagnosis/ PGD - chẩn đoán di truyền tiền làm tổ) là xét nghiệm được thực hiện trên các phôi, nhằm phát hiện các bệnh di truyền do đột biến gen đã định hướng từ trước hoặc có tiền sử gia đình rõ ràng. PGT-M có thể kiểm tra bộ gen của phôi từ giai đoạn rất sớm, từ đó phát hiện ra các đoạn bất thường trên 1 gen cụ thể mà được di truyền từ bố mẹ.
Từ đó, các phôi đồng hợp gen bệnh sẽ bị loại bỏ trước khi chuyển vào trong buồng tử cung của mẹ. Hiệu quả của phương pháp này đã được chứng minh giúp hạn chế tình trạng trẻ sinh ra mắc bệnh cũng như hạn chế việc phải chấm dứt thai kỳ nửa chừng khi thai nhi bị bất thường thiếu máu nặng.
Không chỉ có hiệu quả trong việc chẩn đoán bệnh Thalassemia, kỹ thuật PGT-M còn giúp chẩn đoán nhiều bệnh lý di truyền đơn gen hiếm gặp khác của phôi. Tính đến nay, ngoài việc thực hiện sàng lọc PGT-M Thalassemia cho hàng ngàn phôi của hơn 1000 cặp vợ chồng, GENTIS đã triển khai kỹ thuật PGT-M cho rất nhiều bệnh lý di truyền hiếm gặp khác như: Loạn dưỡng cơ Duchenne, Thoái hóa cơ tủy, Hemophilia, Tăng sản thượng thận bẩm sinh, … 
Tại GENTIS, cùng với việc ứng dụng các công nghệ kỹ thuật mới, sử dụng hệ thống máy móc hiện đại (công nghệ Veriseq PGS, hệ thống giải trình tự ADN thế hệ mới NGS Illumina - Mỹ và các phương pháp phân tích SNP, STR), xét nghiệm PGT-M được thực hiện một cách chặt chẽ nhằm mang lại kết quả có độ tin cậy nhất theo đúng tiêu chuẩn ISO 9001:2015.
Trong thời gian sắp tới, với công nghệ hiện đại đang ngày một phát triển, GENTIS sẽ không ngừng nghiên cứu PGT-M trên nhiều bệnh lý di truyền hiếm gặp khác, tăng cao tỷ lệ thành công cho quá trình sàng lọc tiền làm tổ để mang lại niềm vui, niềm hạnh phúc, đón chào những em bé khỏe mạnh tới các gia đình.
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            [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.
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IVF has undergone more than 25 years of development in Vietnam, and marks 25 years since the first IVF babies were born in 2023. In recent years, the field of assisted reproduction in Vietnam has been highlighted having a faster growth rate than other countries in the region. To date, there are more than 40 licensed IVF centers operating in Vietnam, with an estimated 40,000 new treatment cycles per year. With this scale, Vietnam is currently the country that performs the most IVF in the ASEAN region.
In addition to the growth in quantity, the professional quality and management level of IVF centers have also developed rapidly. Currently, IVF Vietnam is considered to have a high reputation and expertise in the region and around the world. At the same time, IVF centers also invest in the quality of medical services. It is expected that in the future, IVF Vietnam will continue to develop at a fast pace and Vietnam can become a country with a thriving and pioneering assisted reproductive industry in the region.
In order to contribute to the future development of Vietnam's assisted reproductive industry, the "IVF Summit" is held every 2 years to create opportunities for managers and executives of the centers. IVF in Vietnam met and discussed management and operation issues in Vietnam. This is also a forum for center managers to share experiences, exchange issues in practice, as well as share industry orientations, contributing to helping Vietnam's fertility support industry in accordance with the law to keep up with the development of countries in both professional and management.
Following the previous conference, in 2023, the 3rd IVF Summit was successfully held on February 25 in Da Lat city, attracting nearly 300 delegates with 4 official sessions and 12 reports presented by experts. from leading units and hospitals such as the Department of Maternal and Child Health Ministry of Health, Central Obstetrics and Gynecology Hospital, Tu Du Hospital, Binh Dan Hospital, Tam Anh General Hospital, etc. Attendees to the conference are limited to 1. Leaders of major hospitals, reproductive support centers to be updated with practical knowledge.
The conference program includes topics related to the trends in expertise, techniques and technology in the field of IVF, the development situation of the policy society related to the development of the industry and sharing experiences in the daily operation of IVF centers.
Prominent among them are reports on current important content such as: "Medical insurance in infertility", "Cost of an in vitro fertilization cycle from a medical economic perspective", "Building building effective quality indicators for an HTSS center", "The role of clinical genetics in practice", "Current trends in the HTSS lab"...

Participating in this year's conference, representatives of GENTIS's leadership have acquired new knowledge about assisted reproductive technology, and determined the goal of improving laboratory quality and testing techniques to ensure results. Accurately sent to hospitals and centers.
Dr. Pham Dinh Minh, Director of GENTIS Research and Development Center shared after the conference: “IVF Summit has brought a lot of useful knowledge to doctors and specialists, especially testing and support units. reproductive aid. GENTIS is honored to participate in this conference to update the techniques of assisted reproductive testing in accordance with the reality of the doctor's appointment at the institute. It is hoped that the conference will be held regularly to create a useful playground for experts and doctors in the field of assisted reproductive technology.”
Once again, GENTIS company would like to congratulate the Conference on a great success. To serve hospitals and clinics in the field of assisted reproductive technology, GENTIS promises to always ensure the quality of tests and develop many new valuable products to provide to all doctors and infertility family.
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            [title] => GENTIS provides intensive training in PGT techniques at Quang Ninh Obstetrics and Gynecology Hospital
            [description] => 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.

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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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            [title] => GENTIS is pleased to receive ISO 13485:2016 Quality Management System Certification
            [description] => 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.

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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.
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            [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.
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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 !
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            [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
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Hằng năm cứ đến ngày 27/02 là mọi người dân Việt nam lại có dịp được thể hiện lòng kính trọng và sự biết ơn của mình đến các y – bác sĩ.
Ngày 27/02 là ngày Thầy thuốc Việt Nam, bắt đầu từ sau năm 1955, gắn với sự kiện Chủ tịch Hồ Chí Minh viết thư gửi Hội nghị cán bộ ngành y tế. Bộ Y tế Việt Nam đã lấy ngày 27 tháng 2 làm ngày truyền thống của ngành nhằm nêu cao trách nhiệm và tài trí của người cán bộ y tế trong sự nghiệp xây dựng và bảo vệ Tổ quốc. 

Trong 67 năm qua Ngành Y tế đất nước ta đã có bước phát triển toàn diện, mạnh mẽ. Mạng lưới y tế dự phòng, cơ sở khám chữa bệnh, sản xuất và cung ứng dược phẩm; hệ thống chính sách tài chính, bảo hiểm y tế; năng lực chuyên môn, trình độ khoa học của đội ngũ y bác sĩ, cán bộ nghiên cứu về sức khỏe… đều có bước phát triển vững mạnh. Nhiều giáo sư, bác sĩ đã được nhà nước vinh danh phong tặng Anh hùng lực lượng vũ trang nhân dân, Anh hùng lao động, Thầy thuốc nhân dân, Thầy thuốc ưu tú. Đó là những tấm gương sáng về đạo đức, tinh thần vì nước, vì dân, sống hết mình vì người bệnh, xứng đáng là tấm gương sáng để các thế hệ sau noi theo và phát huy để phục vụ tốt hơn nữa trong công tác chăm sóc và bảo vệ sức khỏe cho nhân dân.
Ngoài sự tận tụy với công việc, bệnh nhân còn là những gian khổ khi phải xa gia đình, người thân kéo dài, làm việc dài ngày trong môi trường lây nhiễm và căng thẳng, nhưng những khó khăn, nguy hiểm đó đều không cản trở được tinh thần của người thầy thuốc. Áp lực, vất vả là thế nhưng không làm giảm đi ý chí của họ. Đó không chỉ là nghĩa vụ với nghề, mà còn là trách nhiệm công dân khi Tổ quốc cần, là nghĩa đồng bào, là tình đồng chí cao cả.
Ngày Thầy thuốc Việt Nam không chỉ là ngày tôn vinh nghề thầy thuốc, mà còn là ngày nhắc nhở mọi người hãy sẻ chia với những khó khăn của ngành Y tế.
Nhân Ngày Thầy Thuốc Việt Nam 27/2, GENTIS xin kính chúc tất cả những người thầy, người cô, bác sĩ, y tá… cùng những người đã, đang công tác trong ngành y và những người đã nghỉ hưu có thật nhiều sức khỏe, hạnh phúc, gặt hái được thật nhiều thành công trong sự nghiệp, cuộc sống.
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            [title] => Low fetal fraction (FF) leads to inconclusive NIPT test results
            [description] => In the NIPT test, the fetal fraction (FF) is considered the first and important factor to evaluate the test quality. How a low fetal fraction (FF) can lead to indeterminate results in the NIPT test
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I. EFFECT OF Fetal Fraction (FF) on NIPT RESULTS
Non-invasive prenatal screening test (NIPT) is an advanced screening method to detect fetal aneuploidy through fetal free DNA (cfDNA) in maternal blood. Fetal cfDNA is derived from apoptosis of trophoblastic cells (syncytiotrophoblasts), while maternal hematopoietic cells are the source of most maternal cfDNA. Both the mother and the fetal placenta produce cfDNA and circulate in the maternal blood circulation, of which maternal cfDNA accounts for 90% (Figure 1).

In the NIPT test, the fetal fraction (FF) is considered an important factor and is the first factor to evaluate the quality of the test. FF is the ratio of fetal cfDNA to all circulating cfDNA in maternal plasma. As reported by Scheffer et al. 2021, the minimum FF to produce reliable results and minimize the number of false negatives as well as not giving results is 4%. However, for many modern methods used today, reliable results can be obtained at much lower FF levels (from 2.6% - 3.5%).  
According to the 2020 meta-analysis data, between 1.7 and 8% of pregnant women with very limited amount of fetal DNA circulating in the blood have been reported in clinical cases. In these cases, the amount of cfDNA in the fetus is not enough to read the NIPT result, called "unreportable" or "inconclusive", at which point the pregnant woman is usually advised to have her blood drawn and retest. This causes inconvenience or even anxiety for pregnant women, and increases the cost of sequencing and labor for laboratories.
Low FF was investigated to find out the factors that can influence with the desire to minimize this situation to improve the value of the test. The factors associated with low fetal fractions are known: gestational age, maternal obesity, and technical problems.
II. SOME FACTORS THAT CAN CAUSE NIPT RESULTS
1. Gestational age
From the 5th week of gestation, fetal cfDNA was detectable in the mother's blood, but the amount was too low to warrant NIPT testing. From 10 to 21 weeks of gestation, FF fluctuated around 10-15%, in which fetal cfDNA increased by 0.1% per week (p<0.0001). After 21 weeks of gestation, fetal cfDNA increased by 1% per week (p<0.0001). Therefore, the recommended gestational week to perform NIPT is from the 10th week, accordingly, blood samples taken at an earlier gestational week may cause the FF to be insufficient to ensure the accuracy of the test.
Results from recent studies have shown a correlation between fetal cfDNA levels and gestational age, with FF being proportional to gestational age. In the 2020 study by Danielius et al., the team performed a retrospective study of nearly 1,000 NIPT samples, the results showed that fetal cfDNA levels gradually increased over the weeks of gestation, from 10 to 21 weeks of gestation. , FF fluctuates in the range of 10-15% (Figure 2).
Therefore, the NIPT test should only be performed between 10 and 20 weeks of pregnancy, when the cfDNA concentration is sufficient to ensure the most accurate test results as well as full consultation from the doctor.

2. Maternal obesity
Among the factors that can influence FF, a high maternal body mass index (BMI) is a well-recognized factor. Studies indicate an inverse relationship between BMI and FF to explain inconclusive NIPT results. The reason is explained that in pregnant women with obesity, total cfDNA levels are increased due to increased adipose tissue necrosis and increased apoptosis of vascular stromal cells. Although fetal cfDNA was unaffected, maternal total cfDNA was increased, resulting in a lower overall FF.
The study of Danielius et al in 2020 evaluated the correlation between maternal weight and FF (r = −0.330, p < 0.001). The results showed that the group of pregnant women weighing ≥95 kg had the lowest FF (5.6%), much lower than the group of pregnant women weighing 45-54 kg (FF was 11.1%). (Figure 2).

In addition, some factors such as maternal cancer or autoimmune disease have also been reported to affect FF, since the use of drugs to treat the disease increases the number of total DNA fragments. maternal circulation, resulting in lower FF.
3. Technical problems
Technical issues such as cfDNA extraction efficiency, library generation efficiency and genetic sequencing technology platform are factors that contribute to the success of the assay. Through the DNA extraction process, if the technique is not guaranteed, it can reduce the concentration of cfDNA in the plasma, thereby affecting the quality of gene library creation and the number of copies of sequenced DNA.
Up to now, major research centers around the world are always trying to find and come up with new technological solutions to overcome the risks that cause NIPT results to go unreported, such as improving the extraction efficiency of cfDNA. , optimize the FF to the minimum that can perform the test or set up a dedicated bioinformatics software to analyze the results.
As a pioneer in genetic analysis in Vietnam, GENTIS uses next-generation gene sequencing technology on the NextSeq 550 sequencer system of Illumina, USA. Illumina is known as a leading technology company in the world in gene sequencing, with outstanding quality voted by the worldwide community of scientists as a technology company used in scientific research, develops tests in the field of molecular biology the most.
When comparing Illumina's technology platform with some other technology platforms, Illumina shows outstanding advantages in terms of cfDNA detection at low concentrations of 1.4 - 2.7% and test failure rate. (0.1%) lowest among the platforms being used today. In addition, the GENTIS R&D team has successfully developed a proprietary bioinformatics software that optimizes the readability of the results, thereby improving the accuracy of the NIPT test.
The NIPT test is gaining popularity today because of its high accuracy and helps to reduce the risks posed by invasive methods. However, NIPT is still a screening test, so it is essential to understand and fully understand the nature of the test, as well as the possible causes that lead to NIPT cases not determining the results.
Through the article, GENTIS hopes to have provided more useful information on factors affecting low FF, the main cause of underreported results, thereby helping clinicians make informed decisions. receive the most appropriate advice and guidance.
References:
[1] Hu P, Liang D, Chen Y, Lin Y, Qiao F, Li H, et al. An enrichment method to increase cell-free fetal DNA fraction and significantly reduce false negatives and test failures for non-invasive prenatal screening: a feasibility study. J Transl Med 2019;17:124. 29 
[2] Van Opstal D, Srebniak MI, de Vries F, Govaerts LCP, Joosten M, et al. False negative NIPT results: risk figures for chromosomes 13, 18 and 21 based on chorionic villi results in 5967 cases and literature review. PLoS One 2016;11: e0146794.
[3] Scheffer PG, Wirjosoekarto SAM, Becking EC, et al. Association between low fetal fraction in cell-free DNA testing and adverse pregnancy outcome: A systematic review. Prenat Diagn. 2021;41(10):1287-1295. doi:10.1002/pd.6028
[4] Serapinas D, Boreikaitė E, Bartkevičiūtė A, Norvilaitė K, Narbekovas A, Bartkevičienė D. The Level of Free Fetal DNA as Precise Noninvasive Marker for Chromosomal Aneuploidies: First Results from BALTIC Region. Medicina (Kaunas). 2020;56(11):579. Published 2020 Oct 30. doi:10.3390/medicina56110579
[5] White K, Wang Y, Kunz LH, Schmid M. Factors associated with obtaining results on repeat cell-free DNA testing in samples redrawn due to insufficient fetal fraction [published online ahead of print, 2019 Mar 27]. J Matern Fetal Neonatal Med. 2019;1-6. doi:10.1080/14767058.2019.1594190
[6] Du Y, Chen A, Yang R, et al. A proof-of-concept study on the effects of low total cfDNA content and solutions to increase the NIPT trisomy 21 detection rate. J Clin Lab Anal. 2020;34(2):e23035. doi:10.1002/jcla.23035
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            [title] => Interpretation of False Negative results in the NIPT test
            [description] => The accuracy of NIPT is also highly dependent on technical factors and many other biological mechanisms. Let's learn about the risk of causing false negative results in NIPT test in the article below.
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RISK OF WRONG PRIORITY SCREENING RESULTS
Prenatal screening to detect fetal chromosomal abnormalities has become common among pregnant women. The screening methods are known: fetal ultrasound (nochal translucency), maternal serum screening (β-HCG and PAPP-A) with reported detection rates of 60–90% and the false positive rate is 5%.
If the results of this screening test indicate a high risk of chromosomal abnormalities in the fetus, then an invasive diagnostic test such as chorionic villus sampling (CVS) is recommended at 12–13 weeks of gestation or amniocentesis at 15–16 weeks of gestation. While these tests are valuable diagnostic tools because of their high accuracy, they are associated with a 0.5 to 1.0% risk of miscarriage. Since the discovery of placental-derived free-cell DNA (cfDNA) in the blood of pregnant women, this has been seen as a potential avenue for screening for fetal abnormalities with high accuracy. Highly accurate and completely safe for pregnant women and fetuses.

In 2011, the NIPT test entered clinical practice and is considered the most accurate prenatal screening test, with an abnormal detection rate of more than 99% and a low false positive (FP) rate. (<0.1%) and has been recommended by many professional associations around the world such as: International Society of Obstetrics and Gynecology (ISUOG) and American Society of Obstetricians and Gynecologists (ACOG), American Society of Obstetrics and Gynecology International Prenatal Diagnosis (ISPD) and the Royal College of Obstetricians and Gynecologists (RCOG).
However, the accuracy of NIPT is also highly dependent on technical factors and many other biological mechanisms. The CfDNA used in the NIPT assay is released from placental trophoblasts rather than directly from the fetus, and genetic differences between the placenta and the fetus can lead to these results. Inaccuracies, such as false-positive or false-negative results, expose pregnancy management to some risk.
False-Negative RESULTS IN THE NIPT TEST
A false negative result in the NIPT test is interpreted as not detecting abnormalities in the fetus but in fact the fetus has abnormalities on the syndromes screened in NIPT. False negative results in NIPT are rare, but there have been many studies around the world reporting on this case. According to the 2020 statistics, the false negative rate in NIPT can range from 0.02% to 0.26% (Figure 1).

Specific causes that can lead to false-negative results in NIPT have been investigated and reported, and the causes are known to be: presence of fetal mosaicism; low fetal fraction (FF) (due to early sampling, maternal obesity and some technical factors). Learn more about the causes of false-negative results on NIPT and some of the clinical reports.
CAUSE OF False-Negative NIPT TEST
1. Phenomenon of fetal mosaicism
Placental-placental mosaicism is a challenging biological problem and one of the most frequent causes of discrepancies between NIPT and diagnostic test results. Mosaic accounted for about 20% of all causes of inaccurate NIPT results.
Mosaic is the appearance of two or more cell lines carrying different sets of chromosomes in the same individual. The mosaicism that occurs between the placenta and the fetus can distort the results of the NIPT test. In the case of fetal mosaicism, the fetal cells carry abnormal chromosomes but the placenta carries normal chromosomes, therefore, when performing the NIPT test, analysis of cfDNA released from the placenta could not detect abnormal cells of the fetus.
In the study by Yang et al., 2017 reported a clinical case of a false negative NIPT test.

A 32-year-old woman who became pregnant naturally and had no family history of genetic disease. At 15 weeks' gestation, the NIPT test showed a low risk for trisomy 13, 18, and 21. The woman continued to have routine antenatal checkups, and during the third trimester, ultrasound imaging revealed heart’s abnormalities. After being consulted and prescribed by the doctor, the pregnant woman decided to have amniocentesis to do the karyotype, the results showed that two different cell lines appeared in the fetus: 47,XX,+18[61]/46,XX [39]. In the end, the pregnant woman decided to terminate the pregnancy.
After the termination of pregnancy, QF-PCR and karyotype tests were continued at different sites on the placenta and fetal cord blood to determine the exact cause of this deviation. The results showed that the placenta showed a low risk for trisomy 13, 18 and 21, while cord blood and DNA from amniotic fluid cells showed different cell lines of 47,XX,+18. 61]/46,XX[39]. Conclusion: The occurrence of fetal mosaicism leads to false negative NIPT results.
Currently, technical limitations as well as problems on biological basis do not allow accurate determination of mosaic ratio and type of mosaic through NIPT test. However, understanding the risk of falsifying results that may result from the presence of mosaicism, especially in the case of false negatives, will help pregnant women and doctors be more careful in managing pregnancies, such as the third trimester. second and third trimester, through ultrasound to monitor fetal growth as well as other abnormalities that may appear.
2. Low Fetal Fraction (FF)
Fetal fraction (FF) is the ratio of fetal cfDNA to all circulating cfDNA in maternal plasma. The NIPT test is based on the analysis of fetal cfDNA released into the maternal blood circulation, therefore, FF is directly related to the ability to detect fetal chromosomal anomalies. When the amount of fetal cfDNA is too low, resulting in a low FF, then it is possible for NIPT results to be falsely negative or unreadable.
Low FF is responsible for up to 50% of false negatives. Factors that can affect the fetal fraction were also investigated and evaluated, including: sampling at an early stage, maternal obesity, and technical problems with testing. also affect a certain percentage.
2.1. Low FF due to early gestational week sampling
Fetal cfDNA released into the maternal circulation is reported to be detectable from 5 weeks gestation, from 10 to 21 weeks gestation, FF ranges from 10-15%, in which fetal cfDNA increases 0.1% per week (p < 0.0001). After 21 weeks of gestation, fetal cfDNA increased by 1% per week (p < 0.0001). Fetal cfDNA fragments are approximately 150-160 bp in length, smaller than maternal DNA and account for 11-13.4% of the total cfDNA present in maternal blood. Research results show that the amount of cfDNA of the fetus increases with gestational age and will be lost within a few hours after birth.

A summary report on the rate of FF to ensure the quality of NIPT testing is FF ~ 4%, and the recommended gestational week is from the 10th week of pregnancy. Therefore, when performing maternal blood sampling at gestational weeks earlier than 10 weeks, may result in insufficient fetal cfDNA to read results or lead to inaccurate results.
In the world, the Fertility Associations have also given very specific guidelines on the use of NIPT, NIPT is recommended to be performed from the 10th week of pregnancy and in Vietnam, according to Decision 1807 issued 2020 clearly states: "The recommended week of pregnancy for NIPT testing is from 10 weeks, after having fetal ultrasound results and consulting a genetic counselor for appropriate indications".
2.2. Maternal obesity
In the 2013 study by Wang et al., the team found a correlation between maternal body mass index (BMI) and total cfDNA. In thin pregnant women, total cfDNA concentrations were shown to decrease due to the dilution effect of increased plasma volume. In contrast, in obese pregnant women, total cfDNA levels were increased due to increased adipose tissue necrosis and increased vascular stromal cell death, which offset the dilution effect. Although fetal cfDNA was not affected, increased maternal total cfDNA resulted in lower FF overall (Table 1).
An increase in maternal body weight or BMI may increase maternal circulating cfDNA concentrations leading to a lower FF ratio. After explaining this phenomenon, many researchers have conducted many regression analyzes to quantify the ratio of FF and BMI in mothers, thereby eliminating the association bias caused by gestational age and BMI.

2.3. Technical problems
 In addition to the above main reasons, technical issues such as cfDNA extraction technology, library creation and sequencing, and bioinformatics software reading results are also a factor affecting the accuracy of the results. Up to now, scientists and research centers around the world have always made great efforts to overcome the erroneous rates of NIPT results through the application of new technologies and their incorporation into clinical practice.
NIPT testing at GENTIS uses next-generation sequencing technology on the NextSeq 550 sequencer system of Illumina, USA. Illumina is a leading technology company in the world in gene sequencing, with outstanding quality voted by the worldwide community of scientists as a technology company used in scientific research, pathology, develops tests in the field of molecular biology the most.

When comparing Illumina's technology platform with some other technology platforms, Illumina shows outstanding advantages in terms of cfDNA detection at low concentrations of 1.4 - 2.7% and test failure rate. (0.1%) is the lowest among the platforms being used today (Table 1). In addition, the GENTIS R&D team has successfully developed a proprietary bioinformatics software that optimizes the readability of the results, thereby improving the accuracy of the NIPT test.

Understanding the causes of unsatisfactory NIPT results is essential for clinicians and genetic counselors to comprehensively advise pregnant women and make appropriate indications both before and after performing the test. Along with choosing a reputable testing unit, using the most advanced and modern technology, it will help doctors and pregnant women get accurate results and clearest advice for more peace of mind. pregnancy management.
References: 
[1] Salomon LJ, Sotiriadis A, Wulff CB, Odibo A, Akolekar R. Risk of miscarriage following amniocentesis or chorionic villus sampling: systematic review of literature and updated meta-analysis. Ultrasound Obstet Gynecol. (2019) 54:442–51. 10.1002/uog.20353
[2] Grati FR, Grimi B, Frascoli G, Meco A.M. Di, Liuti R, Milani S, et al. Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi. Eur J Hum Genet. (2006) 14:282–8. 10.1038/sj.ejhg.5201564
[3] Mackie F. L., Hemming K., Allen S., Morris R. K., Kilby M. D. (2017). The accuracy of cell-free fetal DNA-based non-invasive prenatal testing in singleton pregnancies: A systematic review and bivariate meta-analysis. BJOG 124, 32–46. 10.1111/1471-0528.14050
[4] Van Opstal, Diane et al. “False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review.” PloS one vol. 11,1 e0146794. 15 Jan. 2016, doi:10.1371/journal.pone.0146794
[5] Deng C, Liu S. Factors Affecting the Fetal Fraction in Noninvasive Prenatal Screening: A Review. Front Pediatr. 2022;10:812781. Published 2022 Jan 27. doi:10.3389/fped.2022.812781
[6] Wang E, Batey A, Struble C, Musci T, Song K, Oliphant A. Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenat Diagn. 2013;33(7):662-666. doi:10.1002/pd.4119
[7] Yang J, Qi Y, Guo F, et al. A case of placental trisomy 18 mosaicism causing a false negative NIPT result. Mol Cytogenet. 2017;10:40. Published 2017 Oct 27. doi:10.1186/s13039-017-0341-5
[8] Vora, Neeta L et al. “A multifactorial relationship exists between total circulating cell-free DNA levels and maternal BMI.” Prenatal diagnosis vol. 32,9 (2012): 912-4. doi:10.1002/pd.3919
[9] Samura, Osamu, and Aikou Okamoto. “Causes of aberrant non-invasive prenatal testing for aneuploidy: A systematic review.” Taiwanese journal of obstetrics & gynecology vol. 59,1 (2020): 16-20. doi:10.1016/j.tjog.2019.11.003
[10] Illumina. Analytical Validation of the verifi® prenatal test: Enhanced Test Performance for Detecting Trisomies 21, 18, and 13 and the Option for Classification of Sex Chromosome Status. Illumina White Paper. 2012.
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