3 types of preimplantation genetic testing

This is an automatically translated article.

This article is professionally consulted by Master, Doctor Nguyen Thi Cam Van - IVF Lab Doctor - Reproductive Support Center - Vinmec Times City International Hospital. The doctor has experience and strength in performing specialized techniques of assisted reproduction in the IVF lab.
Preimplantation genetic testing (PGT) is a technique used in reproductive medicine to identify genetic abnormalities in embryos produced through IVF..

1. Three types of PGT . tests

First: PGT-M: a test for genetic diagnosis of preimplantation embryos, this is a diagnostic method for single-gene abnormalities.
Second: PGT-SR : this is an evaluation test for abnormalities caused by chromosomal rearrangement. The PGT-SR test can detect chromosomal abnormalities caused by unbalanced translocations, Robertsonian translocations, and chromosomal inversions.
Third: PGT-A (formerly known as Pre-implantation Genetic Screening - PGS): is a test to screen embryos with abnormalities related to chromosome number. Chromosomes are the genetic material that contains DNA. The number of each type of chromosome in human cells is 2. When the number of chromosomes changes, it can cause the embryo not to develop, not to implant in the uterus, or can cause Down syndrome, Turner, Klinefelter,...
sàng lọc di truyền
Xét nghiệm sàng lọc để phát hiện bất thường nhiễm sắc thể
Recommended video:
What is an embryo biopsy? Why do you need an embryo biopsy?

2. PGT . designator

2.1. PGT-M Husband and wife carry genetic mutations that cause disease: Thalassemia, Myelodystrophy, cystic fibrosis,... Wife carries mutations in X-linked genes (Hemophilia, Duchenne muscular dystrophy /Becker...) Special case: Sex selection: sex-linked genetic disease Late-onset genetic disease (breast cancer gene BRCA1, BRCA2...) Stem cell therapy: select the right HLA case 2.2. PGT-SR Spouse with chromosomal abnormalities: chromosomal balance translocation, Robersonian integration, chromosomal deletion or deletion, Angelman syndrome. 2.3. PGT-A Elderly mother >37 years of age . Family history of having given birth to a baby with a genetic abnormality in the number of chromosomes. Husband is severely infertile (AZF deletion)
IVF
Thất bại khi làm IVF quá nhiều cũng cần tiến hành PGT

3. Process of implementing PGT

The patient underwent ovarian stimulation.
Embryos with good and average quality on day 5 will be screened and biopsied to collect 3 - 5 cells from the trophoblast. After the biopsy, the embryos will be cryopreserved for the embryo transfer cycle and the cells collected will be sent to a genetics lab. Patients will receive test results for each embryo about 10 to 15 days after the biopsy, depending on the type of test.
At the genetics laboratory, samples will be used the following techniques: molecular genetics: PCR, multiplex PCR, sequencing, single nucleotide polymorphism (SNP)... or cytogenetics: fluorescence in situ hybridization (FISH: rarely used because of survey limitations), microarray (arrayCGH, SNP microarray)... to detect genetic abnormalities or chromosomal abnormalities.
Sinh thiết phôi
Sinh thiết phôi để xét nghiệm di truyền
Vinmec IVF Reproductive Center is the address of infertility treatment - infertility is chosen by many couples. So far, the Center has performed fertility support for over 1000 infertile couples with a success rate of over 40%. This rate is equivalent to developed countries such as the UK, USA, Australia,...
The center gathers a team of leading experts in the field of obstetrics and gynecology nationally and internationally, trained in centers leading in the world such as in the US, Singapore, Japan, Australia and famous fertility centers in the world.
With high expertise and extensive experience, Vinmec IVF Center's experts are capable of synchronously and comprehensively deploying the most advanced assisted reproductive techniques today, helping realize the dream of becoming a parent of hundreds of families across Vietnam.

Please dial HOTLINE for more information or register for an appointment HERE. Download MyVinmec app to make appointments faster and to manage your bookings easily.

Recommended video:
What day of the IVF cycle should embryo transfer be?
This article is written for readers from Sài Gòn, Hà Nội, Hồ Chí Minh, Phú Quốc, Nha Trang, Hạ Long, Hải Phòng, Đà Nẵng.

83 reads

Relating articles
  • Sàng lọc phôi
    What is an embryo biopsy? Why do you need an embryo biopsy?

    Công tác chẩn đoán và xét nghiệm di truyền trước chuyển phôi trong điều trị vô sinh là một trong những việc làm cần thiết, giúp nâng cao hiệu quả trong chăm sóc sức khỏe sinh sản, hỗ trợ điều ...

    Readmore
  • sàng  lọc Thalassemia
    Application of PGT-M to screen for Thalassemia genetic disease

    Thalassemia là bệnh lý di truyền gen lặn phổ biến nhất trên thế giới chiếm khoảng 4,8% dân số toàn cầu. Ở Việt Nam, tỷ lệ mang gen bệnh ở người Kinh 2 - 4%. Tỉ lệ này rất cao ...

    Readmore
  • Đông lạnh phôi phôi rã đông 1
    Evaluation of embryo quality after defrosting

    Với những tiến bộ về kĩ thuật hỗ trợ sinh sản, khả năng đông lạnh phôi để lưu trữ ngày càng được thực hiện phổ biến và mang lại nhiều lợi ích. Việc đánh giá chất lượng phôi sau rã ...

    Readmore
  • Sàng lọc di truyền trước chuyển phôi
    Genetic screening before second-generation embryo transfer (PGT-A 2.0)

    Sàng lọc phôi tiền làm tổ (Pre-implantation genetic testing for aneuploidy, PGT-A) là xét nghiệm di truyền thực hiện trên một hoặc một vài tế bào của phôi nhằm xác định các bất thường di truyền ở mức độ nhiễm ...

    Readmore
  • PGTA
    PGT-A and things to know

    PGT-A là tên viết tắt của xét nghiệm sàng lọc di truyền tiền làm tổ nhằm phát hiện các bất thường lệch bội nhiễm sắc thể của phôi (preimplantation genetic testing for aneuploidy). Trước đây, xét nghiệm này được gọi ...

    Readmore