Preimplantation Genetic Diagnosis (PGD)


What is PGD?

PGD is also known as Preimplantation Genetic Diagnosis is an Assisted Reproductive Technique used during In Vitro Fertilization (IVF) to increase the possibility of a healthy pregnancy and delivery. In PGD, embryos are diagnosed with any genetic diseases before being implanted inside the uterus for further growth. It is important because abnormal embryo genetics is the most common reason for problems in conceiving.

PGD can opt if one or both partners have a history of hereditary genetic diseases in their family and are at risk of passing on those to their children. PGD ensures that the embryo implanted is free of any abnormalities and the child born will not be born with those genetic diseases.

Why is PGD important?

Pre Genetic Diagnosis uses the technique of Embryo Biopsy to test the embryos for genetic diseases as well as chromosomal abnormalities. Without PGD, embryos for IVF are chosen just based on their visual quality and morphology, which is ineffective in finding out a specific gene mutation that could have passed on from the intended parents to the baby. PGD is also done if either of the parents has problems like- 

  • Cystic Fibrosis (female)
  • Muscular dystrophy
  • Huntington’s Disease
  • Hemophilia

How is PGD performed with IVF?

Before testing the embryos, first, the intended parents are tested for any genetic problems that could be passed on to their child. After this, once the eggs have been fertilized in the lab for IVF, the embryos are allowed to divide into multiple cells for 3 to 5 days. These embryos are then genetically diagnosed via PGD. The process is as follows-

  • After 5 days, the embryologist takes a small sample of cells (4-10) from the embryo. Many experts consider biopsy on the 5th day of the blastocyst the highest standard for PGD testing. And the embryos are frozen for later use…
  • After the biopsy, the DNA of the cells removed is diagnosed for any genetic disorder.
  • The embryo(s) which are free of any genetic deformity are transferred inside the uterus for further growth, to ensure a healthy and safe pregnancy. If nay embryos of good quality are left, they are frozen for future use.

Who should get PGD testing done?

PGD is recommended for those who have a high risk of transferring genetic disorders to their children due to certain reasons, like-

  • The age of the intended mother is 35 or more, which leads to a high risk of embryos having abnormal genetics.
  • The intended parents have a family history of genetic diseases.
  • The couple has a history of previously failed IVF cycles.
  • The intended mother has suffered multiple miscarriages in the past.
  • The couple has a previous child who has genetic problems.
  • Unexplained infertility is also a reason for getting PGD tests.

What are the risks involved in PGD?

Just like any other medical procedure, PGD also involves certain risks. However, it is riskier to carry on IVF pregnancy without getting PGD done, especially when there are indications of genetic disorders being passed to the baby. 

The risks involved in PGD are-

  • Delayed embryo implantation inside the womb.
  • Sometimes, not all genetic disorders can be detected in PGD. Certain disorders might start showing after the pregnancy has reached half term or not even then. PGD can find out almost all genetic problems, but the risk does not get eliminated.
  • If the PGD testing is not conducted properly, a defective embryo might be transferred to the womb instead of a healthy one.
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