WHAT IS PGD?

Most of the twenty-five thousand or so genes in the human genome have now been identified and their DNA sequenced. Molecular analysis of genes is becoming simpler and more efficient. As a consequence, PGD with IVF, can now save couples from having to face the difficulty of giving birth to children with almost any of the genetic defects such as Down syndrome, cystic fibrosis, muscular dystrophy, sickle cell anemia, Turner syndrome, Tay-Sachs, Gaucher’s disease, mental retardation, etc.

With PGD, we can also better understand the problem of recurrent, early miscarriages and the genetic errors that arise in pregnancies of older mothers.

For a PGD ICSI is performed; the injected eggs are inspected under the microscope to determine fertilization. The fertilized eggs are then placed back into the incubator and allowed to develop. Two days later, the embryos are removed and inspected to see whether they have reached the 8 cell stage. These cells are called blastomeres.

Each one contains identical chromosomal information. The next phase of the preimplantation genetic diagnosis process is called a Blastomere Biopsy. During this time, the cells that were removed from the developing embryo (specifically the genetic material inside of the cells) is tested for various abnormalities or characteristics. This information is then used to decide which embryos are to placed inside the uterus.

INDICATIONS FOR PGD:

• Couples with a high risk of transmitting an inherited condition.
  Monogenic disorder, Autosomal recessive, Autosomal dominant or X-linked disorders
• Translocation - PGD helps these couples identify embryos carrying a genetic disease or a chromosome abnormality, thus avoiding the difficult choice of abortion. In addition, there are infertile couples who carry an inherited condition and who opt for PGD as it can be easily combined with their IVF treatment.
• Aneuploidies screen(Pre-genetic screening) to increase the chances of an ongoing pregnancy
• Advanced reproduction age
• A history of recurrent miscarriages or repeated unsuccessful implantation
• Proposed for patients with obstructive and non-obstructive azoospermia

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