PGS/PGD

What is PGS/PGD? 

Preimplantation genetic diagnosis or screening, or PGS/D, is a reproductive technology employed with an IVF cycle. PGS/D can be utilized for the diagnosis of a genetic disorder in early embryos before implantation and pregnancy occur. Additionally, this technology can be used when chromosome anomalies, recessive genes, and family history of complications is a concern for the couple.

Who Can Benefit from PGS/D?

Many couples have benefited from PGS/D. The procedure can help if:

• You are over 35
• You wish to balance the genders in the family
• Several miscarriages have occurred
• A chromosome abnormality was present in a prior pregnancy
• Several failed IVF cycles have occurred
• Balanced structural chromosome rearrangement is a concern
• An autosomal dominant genetic disease such as Marfan syndrome is present
• There is a history of Huntington disease
• A recessive genetic disease such as cystic fibrosis is present
• An X-linked genetic disease like hemophilia or Duchenne Muscular Dystrophy is a risk

How is the PGS/D performed?

Preimplantation genetic diagnosis will start with the same initial process of in vitro fertilization which includes egg retrieval and fertilization outside of the uterus in a laboratory. Over the next five to six days, the embryo develops into a blastocyst. Once this occurs, PGD/S will include the following steps:

• First, several cells are taken from the embryo.  A process called embryo biopsy.  The embryo is then frozen (vitrification) while testing on the cells is completed.
• The cells are then assessed to determine if an inherited, problematic gene has been passed on to the embryo.  These cells are analyzed at an outside laboratory.
• Once the PGS/D results have come back and embryos have been found to be free of genetic problems, the embryo will be returned to the uterus (embryo transfer) and implantation will be continue as normal.
• Any additional embryos which are free of genetic concerns will remain frozen to be used later. Embryos with problematic genes are destroyed before they develop.