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Preimplantation Genetic Diagnosis (PGD)

Preimplantation Genetic Diagnosis (PGD)

What is PGD?

Preimplantation genetic diagnosis (PGD) is a technique that can be used in conjunction with In Vitro Fertilization (IVF) to test embryos for genetic disorders prior to their transfer to the uterus. PGD makes it possible for couples with serious inherited disorders to decrease the risk of having an affected child. PGD also can be considered for couples experiencing repeat pregnancy loss due to genetic disorders, and for couples that already have one child with a genetic disorder and are at high risk of having another.

PGD is performed using a high-powered microscope.  One or more cells are removed from the embryo and tested for the genetic trait of interest. The unaffected embryos are identified, separated from the affected embryos, and transferred into the uterus.  Our embryologists perform a cell biopsy on the Day 3 multicell embryos (typically one cell is removed from each embryo), or on Day 5/6 blastocysts (a few cells are removed from each embryo).  The biopsied cells are processed by our embryology team according to the type of PGD requested.  Depending on the reason the couple is pursuing PGD, the following types of PGD analyses are used:

  • Single Gene Analysis for specific inherited disorders, such as Cystic Fibrosis, Fragile X, Myotonic Dystrophy, Thalasaemia, Tay Sachs, and others.
  • Fluorescence In Situ Hybridization (FISH) for aneuploidy screening, benefiting couples experiencing repeat pregnancy loss or women of advanced maternal age.  FISH screening analyzes some (not all) of the chromosomes.
  • Microarray Comparative Genomic Hybridization (Array CGH) for aneuploidy screening, benefiting couples experiencing repeat pregnancy loss or women of advanced maternal age.  Array CGH analyze all chromosomes.
PGD involves many benefits and risks, and our physicians will discuss these topics with you during your consultation.



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