What is Preimplantation Genetic Diagnosis (PGD)?

PGD, or pre-implantation genetic diagnosis, is a branch of technology used in the scanning of embryo’s prior to their use in IVF. It serves to assist in the detection of genetic disease in an embryo. Using it early in the IVF cycle can prevent the risk of having a child

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PGD Testing

with certain diseases. PGD can also be used for aneuploidy screening to scan for an imbalance in the inheritance of chromosomes and other abnormalities, such as possible inversions or translocations.

Who uses (PGD) pre-implantation genetic diagnosis?

There are many couples who have benefited from the diagnosis provided by PGD, and the determination on whether or not it can benefit you is as simple as comparing yourself to a list of criteria.

The ideal candidates who should seek PGD testing prior to having a child are as follows: women who are over 35, those who have had a prior pregnancy with chromosomal abnormalities, those who have experienced a failed IVF cycle previously, have had difficulty conceiving due to low sperm count, or those who are known to be the carrier of a genetic abnormality.

What does (PGD) pre-implantation genetic diagnosis do?

PGD serves to significantly reduce the chance of having a baby affected with a genetic condition. This testing provides an increased chance of having a healthy child since the embryos that have been tested and found healthy are still viable for use in the implantation process.

There are three main things tested with a PGD screening, each to check for a potential detrimental effect the embryo may possess.

  • Aneuploidy This is a test performed to check the chromosomal composition of an embryo. During division of the cells within either the sperm or the egg, there is the potential for a mis-division leading to either a surplus or a lack of chromosomes. The improper count of chromosomes gives this test its name, and can result in defects such as Downs syndrome, Trisomy 18, or Turner’s syndrome.
  • Chromosome rearrangements This condition is also referred to as having either an inversion or a translation. This is performed for individuals who are already known to be a carrier of this condition, and is used to see if the embryo has had Fertility Doctor Denverthe same rearrangement take place.
  • Single Gene Disorders This tests for a specific disorder that is known to potentially run in that family line. Tay-Sachs disease, muscular dystrophy, Huntington’s disease, and cystic fibrosis are all examples of single gene defects that can be passed onto the offspring.

PGD can help to detect these and others, and is a viable testing option to check for any specifically known genetic mutation.

Rocky Mountain Fertility offers PGD with an experienced fertility doctor, Dr. Deborah Smith.  Dr. Smith was recently named the Top Fertility Doctor in Colorado by Health Tap. As a top fertility clinic in Colorado, Rocky Mountain Fertility has an on-site lab and a Board Certified embryologist as the Medical Director.

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