Pre-implantation Genetic Testing (PGT)

At HealthPus, there is an ultramodern genetics laboratory that is fully equipped to perform genetic testing on the embryos that are created using in vitro fertilization (IVF). 

Through genetic testing, a large amount of information can be acquired about an embryo before it is transferred to the uterus. After the formation of an embryo via an IVF cycle that occurs following the egg collection and ICSI, the embryo is tested by taking a few cells from it. The embryo is not transferred to the uterus until the results are released.

  1. Comprehensive Chromosomal Screening (CCS): Here, all the 24 chromosomes are screened to determine the gender as well as to find out if there are any missing or additional chromosomes. Abnormalities in chromosomes are one of the major causes of miscarriage.
  2. Gender Selection: This is the screening of the embryos so that the gender can be determined as well as for chromosomal abnormalities.
  3. Pre-implantation Genetic Testing: The embryos can be tested for all the 24 chromosomes before they are transferred into the uterus. This is called pre-implantation genetic testing.
    • PGS (screening) – involves testing of embryos for chromosomal abnormalities.
    • PGD (diagnosis) – involves testing the embryos for a specific known genetic or hereditary disease to ensure that the child does not have it as well.
  4. HLA matching: An HLA (HumanLeukocyte Antigens) matching is used to identify embryos that are HLA compatible with a child who needs bone marrow or cord blood transplant. The child (or the future sibling) of such tissue is often called  a Savior sibling. 

There are three different methods that can be used to identify hereditary diseases in an embryo. After tests and counselling, a method of testing will be settled on. Pre-implantation Genetic Diagnosis (PGD) is usually recommended during the IVF cycle if a genetic mutation is found so that the disease is not transferred.

  • Mutation screening is used to detect mutations present in small genes or genetic diseases that can only be caused by a small number of mutations.
  • Exome Screening is used to check for hereditary diseases that have yet to be identified or for diseases that involve the interaction of two or more genes. Exome Screening has the capacity to analyze tens of thousands of genes at a time.

Blood tests can also be carried out to ensure that there is very little chances of children having the same hereditary diseases as the parents. A common example is the Premarital or Preconception Screening that is done for couples that have a known hereditary disease in their family history and want to be sure that there is no possibility of their children inheriting such a disease.