Pre-Implantation Genetic Diagnosis

Preimplantation genetic diagnosis, involves removing a cell from an IVF embryo to test it for a specific genetic condition before transferring the embryo to the uterus. This is to avoid selective pregnancy termination of the affected child. It is considered as an alternative to prenatal screening.

The most common indications for recommending single gene PGD include:

1. Previous birth of a child with a single gene disorder, such as Cystic Fibrosis, Tay Sachs, Muscular Dystrophy, Hemophilia, Thalassemia, fragile X or Sickle cell.

2. Both partners are “carriers” for a single gene disorder based on screening tests and, therefore, at risk for passing on inherited genetic disease to their offspring.

“I CAN’T CHANGE THE DIRECTION OF THE WIND, BUT I CAN ADJUST MY SAILS TO ALWAYS REACH MY DESTINATION.”


Jimmy Dean

PGD is done when an embryo becomes a blastocyst which normally has more than 100 cells five days after fertilization, two or more cells are biopsied from the blastocyst, or it can also be done by taking one or two cells from an 8-cells embryo. Genetic analysis is then performed on the cells that are obtained, to see whether the embryo contains the abnormal gene or chromosome. Those embryos or blastocysts that are chromosomally or genetically abnormal will not be transferred and allowed to perish. The embryos or blastocyst with normal gene will be transferred back into the uterus and allowed to implant and develop.

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