Preimplantation Genetic Testing

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Preimplantation genetic testing (PGT) is a procedure used prior to implantation to help identify genetic defects within embryos. This serves to prevent certain genetic diseases or disorders from being passed on to the baby. The embryos used in PGT are created during the process of in vitro fertilization (IVF) / Intracytoplasmic Sperm Injection (ICSI).

How is the PGT performed

Preimplantation genetic testing begins with the normal process of IVF/ICSI that includes egg retrieval and fertilization in a laboratory. Over the next three to five days, all the embryos will divide into multiple cells.

Procedure of Preimplantation genetic testing involves the following steps :
  • First, few cells of the growing embryos are removed.This is an extremely complicated process needs great expertise & experience.
  • The DNA of the cells retrieved is then evaluated to determine if the inheritance of  specific problematic genes are present in each embryo. The results are obtained between 10-14 days.
  • Once PGT has identified embryos free of genetic problems, the embryo(s) transferred in the uterus at an appropriate time after the uterine lining (endometrium) is ready for implantation and then wait for the pregnancy outcome.
  • Any additional embryos that are free of genetic problems as evaluated by PGT, are kept frozen for later use as and when required.

Who can benefit from PGT?

Preimplantation genetic testing can benefit any couple at risk for passing on a genetic disease or condition to the offspring.

The following is a list of the type of individuals who are possible candidates for PGT:
  • Carriers of sex-linked genetic disorders.
  • Carriers of single gene disorders.
  • Those with chromosomal disorders.
  • Women age 35 and over.
  • Women experiencing recurrent pregnancy loss.
The following are considered concerns or fallacies associated with the use of PGT:
  • While PGT helps reduce the chances of conceiving a child with a genetic disorder, it cannot completely eliminate this risk. Further testing is needed during pregnancy to ascertain if a genetic factor is still possible.
  • Although genetically present, some diseases only generate symptoms when carriers reach middle age. The probability of disorder development should be a topic of discussion with the healthcare provider.
  • Keep in mind that preimplantation genetic testing does not replace the recommendation for prenatal testing.
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