3 types of preimplantation genetic testing

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,...

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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)

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.

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.

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Bài viết này được viết cho người đọc tại Sài Gòn, Hà Nội, Hồ Chí Minh, Phú Quốc, Nha Trang, Hạ Long, Hải Phòng, Đà Nẵng.