PGT-A / PGT-M
Preimplantation Genetic Testing (PGT) is a genetic test performed on embryos produced through ICSI (TEST TUBE BABY). PGT gives information about embryos’ genetic health to help your care team select the best embryo for transfer and improve your chances of achieving a successful pregnancy
What is pre-implantation genetic testing PGT?
There are two methods, PGT-A and PGT-M.
PGT-A is the abbreviation of Preimplantation Genetic Testing for anomalies. PGT-A helps in testing embryos received from presumed chromosomally normal genetic parents for aneuploidy i.e. the presence of an abnormal number of chromosomes in the embryo cells (46 is the normal number of chromosomes in a cell). Thus, the PGT-A process is also referred to as aneuploidy screening. PGT-A can detect chromosomal abnormalities in the cells as affected embryos either do not lead to pregnancy or result in miscarriages.
PGT-A is the abbreviation of Preimplantation Genetic Testing for anomalies. PGT-A helps in testing embryos received from presumed chromosomally normal genetic parents for aneuploidy i.e. the presence of an abnormal number of chromosomes in the embryo cells (46 is the normal number of chromosomes in a cell). Thus, the PGT-A process is also referred to as aneuploidy screening. PGT-A can detect chromosomal abnormalities in the cells as affected embryos either do not lead to pregnancy or result in miscarriages
PGT-M or Preimplantation Genetic Testing – for monogenic/single-gene. PGT-M is a procedure in which the embryo is tested for the presence of specific known genetic diseases already diagnosed in the couple by karyotyping. The embryos tested are obtained through the process of ICSI. PGT-M is done on embryos tested to be normal in PGT-A. The PGT-M process is useful for couples where one or both genetic parents have a serious inherited disease or a family history of chromosomal and/or genetic disorders that they want to avoid passing on to their children
PGT-M and PGT-A helps to eliminate genetically abnormal embryos and helps to select and transfer disease free embryos into the uterus. Therefore, PGT increases the chances of successful pregnancy
When is PGT-A Recommended?
- Couple whose multiple IVF cycles have been unsuccessful
- Advanced maternal age, more than 35-year-old
- Women having recurrent pregnancy loss
When is PGT-M Recommended?
- Couples who have a previous pregnancies or a child with a genetic condition
- Couple or family have history of genetic condition – Example, cystic fibrosis, sickle cell anaemia, Tay Sachs disease, Fragile X syndrome, Duchenne muscular dystrophy
What are the advantages of PGT-A/PGT-M?
- PGT-A and PGT-M procedures are safe medical treatments
- PGT-A/PGT-M can check for the presence of various genetic diseases
- Couples who are carriers of genetic diseases have the advantage of choosing disease free embryos for implantation
- PGT-A and PGT-M test results are almost 100% reliable or conclusive
What are the side effects or disadvantages of PGT-A/PGT-M?
- There is a less than 5% risk of damage to the embryos during the biopsy
- Very small probability of inconclusive results
What happens during PGT-A/PGT-M?
- Initial process is same as ICSI (Test tube baby), begin with the ovarian stimulation, egg retrieval and fertilisation in the laboratory.
- Embryo grows into blastocyst in 5 days.
- Embryo biopsy is performed and few cells from the outer layer of the embryo are sent for biopsy.
- Embryos are frozen.
- Results may take a up to two weeks.
- Once results are obtained, the best of all the healthy embryos that are free from any chromosomal disorder and genetic conditions are identified.
- These embryos are placed in the uterus of the female partner.
- Any additional embryos that are free of all medical issues are continued to be frozen for future cycles.
- Pregnancy occurs when the embryo successfully implants into the lining of the womb.
Limitations of PGT-A
- This technique needs training and experienced embryologist to perform embryo biopsy.
- Increases the cost of the cycles.
- High end instrumentation involving and the suitable laser machine.
Are there any alternatives to PGT-A/PGT-M?
Non-Invasive Chromosomal Screening NICS is an alternative to PGT-A and PGT-M. However, NICS can be done only when are the embryos are freshly cultured to blastocysts. This cannot be done with frozen embryos. Other alternative is non-invasive prenatal testing NIPT where mothers blood sample is taken when she is 3 months pregnant, fetal (baby) cells are separated from mothers’ blood and tested for genetic abnormality. In case of abnormal results, a sample from the fluid around the baby (amniocentesis) or small tissue from the placenta (chorion villous biopsy) are recommended to confirm the genetic abnormalities.
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