PGT Services for Thalassemia, Down’s Syndrome & Sickle Cell Anemia

Do you or your family members suffer from a genetic condition?

Are you scared of passing on an inherited genetic disorder to your child?

Preimplantation Genetic Testing (PGT) can help screen genetic disorder.

Dr. Hrishikesh Pai’s name is synonymous with fertility treatment in India. He is the recipient of 40+ awards for his revolutionary work in this field.

What is Preimplantation Genetic Testing?

Preimplantation genetic testing (PGT) also known as Preimplantation genetic diagnosis (PGD) is a technique to screen embryos after in vitro fertilization (IVF) for genetic defects before they are transferred to the uterus.

The doctor specifically recommends preimplantation genetic testing when one or both genetic parents are known to be a carrier of genetic abnormality.  The test is done on an embryo to verify if it also carries a genetic abnormality.

It helps prospective parents prevent the birth of a child with severe genetic conditions such as Thalassemia, Down’s Syndrome, Sickle Cell Anemia, and many more.

Step by step process of preimplantation genetic testing (PGT)

For preimplantation genetic testing, you will have to undergo IVF process even though you may have no difficulties in conceiving naturally.

process of preimplantation genetic testing

Step 1

In this process, the cells of the embryos are biopsied. Three to four cells are taken from the blastocysts and sent for genetic analysis. A blastocyst contains around 100-150 cells.

In the meantime, we will freeze the blastocysts after biopsy on individually numbered straws.

At Bloom IVF Centre, we have our in-house genetic testing. We use the latest S5 Ian Torrent Next Generation Sequencing, which gives highly accurate results. It takes around 1 to 2 months for the result to come.

It is a highly specialized technique which is performed by Dr. Hrishikesh Pai, who has pursued Masters in Clinical Embryology and Andrology in the USA.

Step 2

After two months, we transfer the genetically normal blastocyst into the uterus. Mostly, a single embryo is transferred to avoid chances of multiple births, and it also lowers the miscarriage rate.

The remaining normal embryos are frozen for later use. With this method, we have helped patients of thalassemia and sickle cell anaemia have healthy and normal babies.

Why choose preimplantation genetic testing (PGT)?

  • Hereditary/Genetic disorders (thalassemia, down’s syndrome, sickle cell anemia, balanced translocation, etc.)
  • History of affected offspring or embryos
  • Women older than 35 years
  • Recurrent miscarriages
  • Multiple failed IVF

Benefits of preimplantation genetic testing

  • PGT can test more than 300 specific genetic diseases.
  • It allows couples with a high genetic risk of passing the disease to their children to have healthy babies.
  • It can eliminate sex-linked hereditary diseases.
  • Gives a higher pregnancy rate even with transferring single embryo thereby minimizing complications arising out of multiple pregnancies.

Types of preimplantation genetic testing (PGT)

There are three types of PGT services available which we have briefly discussed below:

PGT – A

Preimplantation Genetic Testing for Aneuploidy (PGT-A) previously known as Preimplantation Genetic Screening (PGS) is a genetic test to identify and transfer euploid (chromosomally normal) embryos by screening all 23 pairs of the human chromosome for aneuploidy.

Embryos having an incorrect number of chromosomes may lead to unsuccessful pregnancy or the baby being born with a genetic condition such as Down’s syndrome, Turner’s syndrome, etc.

PGT – M

Preimplantation Genetic Testing for Monogenic (single-gene) disorders (PGT- M) previously known as Preimplantation Genetic Diagnosis (PGD) is used to test embryos of couples with a high risk of passing a known inherited genetic disorder caused by mutations in a single gene, such as Sickle cell anaemia, Cystic fibrosis Beta-thalassemia, Huntington’s disease etc.

PGT – SR

Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR) was initially known as Preimplantation Genetic Diagnosis for chromosomal translocation. This method identifies embryos with the correct amount of genetic material and embryos having extra or missing genetic material due to the translocation or rearrangement (unbalanced).

PGT-SR reduces the risk of having a child with an unbalanced structural abnormality, which may result in a pregnancy loss.

Cost of Preimplantation genetic testing

Bloom IVF Centre is one of the first centres in India to offer preimplantation genetic testing. This is a very intricate technique which requires expertise and training. Further, we do the testing at our lab using advanced technology.

The cost of PGT depends on several factors which include the type of PGT being performed, and the number embryos that needs testing.

PGT success rate

PGT has an accuracy rate of around 98% for most couples. However, the success of the fertility treatment depends on various factors which include the woman’s age and weight.

Frequently Asked Questions

1Is there any risk to the embryos from the PGT process?

There is a small chance of damaging the embryo due to the biopsy process, which removes a few cells from each embryo for the PGT. Also, the embryos that were vitrified while the test was performed will have to undergo the thawing process before being transferred to the uterus.

2Are there any disadvantages to PGT?

Some of the drawbacks of PGT are:

  • There is a significant increase in cost. Some patients may have to undergo more than one cycle of IVF to get a normal embryo for transfer.
  • Further, you will not be able to undergo fresh embryo transfer as the embryos are frozen while the test is performed.
  • Also, there are chances of damaging the embryo during the biopsy.
  • Although rare, the result may be inaccurate.
3When have I to decide if I want to do PGT?

You will have to decide well in advance of your IVF cycle because blood samples of the couple and sometimes of the family members have to be collected in advance.

The test development phase takes around 8 to 12 weeks after all the DNA samples are received.

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