(PGT)Pre implantation genetic testing in Mumbai

What is Preimplantation Genetic testing?

Preimplantation Genetic testing normally includes tests carried out at different phases of the therapy, such as during IVF, pregnancy, and other tests to detect genetic disorders at any time throughout the treatment.

What are the Indications Of Preimplantation Genetic testing?

  • Women with Advanced maternal age-35 years and above.
  • Women who experinced two or more miscarriages 
  • IVF failures -two or more IVF failures 
  • Infertility due to a several male factor

Genetic Testing During IVF

A female’s sperm and egg possess their own genetic material and information that aids in predicting the development of the child. That is why, following egg retrieval and ICSI, a few cells from the embryo are removed and sent to a genetics laboratory for testing. After the findings of the genetic test are obtained, the embryo is transferred. It’s important to remember that this test has no impact on the total treatment time frame.

PGT-A

The A in PGT-A refers to “aneuploidies,” whereas PGT stands for Preimplantation Genetic Testing. In this test, the embryo is examined for a missing or extra chromosome on all 46 chromosomes, a condition known as aneuploidy. PGT-A is very beneficial for checking the most probable embryo for complications that might lead to diseases like Down Syndrome later on.

PGT-M 

PGT-M is a condition in which testing is done for single-gene diseases or monogenic illnesses. This testing lowers the chances of the child inheriting hereditary disorders like cystic fibrosis or Huntington’s disease, which are caused by a single gene mutation.

What are the advantages of Preimplantation Genetic testing? 

  • Miscarriage rates are lower.
  • Pregnancy rates per transfer are higher.
  • Allows for the detection and transfer of aneuploidy-free embryos.
  • To detect any fetal abnormalities during infertility treatment and pregnancy.

What are the different types of testing?

PGT-A means-testing for Embryonic Anuploidies. Previously it was also called PGS(preimplantation genetic screening). It will simply tell if the given embryo has the required number of chromosomes. Ideally, an embryo should have 23 pairs of autosomes along with one pair of sex chromosomes. If it has any extra or less numb then it will be picked up in this test.
Such anomalies are labeled as Embryonic aneuploidies. Down’s syndrome(trisomy 21) is one such example.

PGT-SR denotes preimplantation genetic testing for the structural rearrangement of chromosomes. Sometimes one part of a chromosome gets detached from its original place and gets attached to a different chromosome. This is called as structural rearrangement of chromosomal translocation. Such anomalies will be picked up by PGT-SR.

PGT-M stands for preimplantation genetic testing for the monogenic or single-gene disorder. Every chromosome has thousands of genes. Each gene is responsible for many functions. Loss or malfunction of a gene may cause gene-specific disorder, e.g Thalassemia. Diagnosis of the single-gene disorder is possible through PGT-M.

Indications:

Whenever a patient has a previous history of a child with Down’s syndrome, PGT-A is indicated. The possibility of embryonic aneuploidies increases with advanced maternal age(mothers age more than 35 years). Hence PGT-A is recommended whenever the mother’s age is above the range. Some couples have a history of recurrent implantation failure. In such cases as well PGT A may be helpful to select the best embryo for transfer.

PGT -SR is indicated in known cases of chromosomal translocations. Similarly, PGT M is indicated when there is a family history of single-gene disorders like thalassemia.

How is the testing done?

The embryos are made by the process of IVF/ICSI and they are cultured till day 5 or 6 /blastocyst stage. At that stage by a delicate procedure, a few cells from the trophectoderm(outer layer of the embryo) are removed and sent for testing.
After that, the embryos are frozen.

Frozen Embryo transfer of genetically normal embryos is planned after the report.

In some cases, the biopsy procedure is done on day 3 of embryonic life where a cell is removed from the embryo for testing and the embryos are cultured further till we get the report.

The technique of PGT is time-tested, safe, and has been bringing joy to the life of many affected couples worldwide.