PART VI: WHAT IS PGD TESTING AND HOW IS IT BENEFICIAL?

In recognition of National Infertility Awareness Week, Rocky Mountain Fertility Center is publishing a 7 Part Series on Infertility (one each day).

For Part VI, we provide an Overview of PGD Testing:

What Is PGD Testing and How Is It Beneficial?

PGD stands for pre-implantation genetic diagnosis and is a procedure performed on embryos or eggs prior to implantation and fertilization. PGD is another form of prenatal testing that provides screening for specific genetic disorders and diseases.  Couples are informed if the embryos or eggs carry the genetic diseases tested for prior to implantation, hence prior to the birth of the baby.

PGD testing is commonly carried out for a number of suspected problems, specifically for genetic screening purposes. The benefits of PGD testing on the egg or embryo are that the couple is aware if there are genetic defects or not before conception and therefore decreasing the likelihood of having to make a decision about pregnancy termination.  PGD can test for chromosomal abnormalities (aneuploidy testing) or for single gene disorders (genetic disease such as Cystic fibrosis or Sickle Cell).

Benefits of PGD Testing

Couples learn if genetic defects are present in the embryo prior to birth, through PGD screening. PGD tests can alert couples of any abnormal fetal tissue that may lead to a  birth of a child with severe genetic defects. PGD testing can be used for a wide number of issues and concerns, including:

• Chromosomal abnormalities- For example: testing for problems such as Down’s Syndrome in woman over 35
• Cancer disposition (carriers)- For example: Breast Cancer gene carriers
• X-linked disorders such as hemophilia
• HLA matching
• Genetic disease such as sickle cell anemia, spinal muscular atrophy, or cystic fibrosis. There are 100’s of genetic diseases that can be tested for with PGD

• Couples with known chromosomal disorders such as balanced translocations
• Carriers of genetic based medical diseases (e.g. Tay Sachs, cystic fibrosis, sickle cell disease)
• Carriers of sex-linked genetic disorders (e.g. Fragile X, Hemophilia)
• Women who have experienced several miscarriages with an unknown cause or multiple pregnancy losses due to chromosomal issues

In some cases PGD can be used to determine the sex of an embryo, although the discarding of embryos based upon gender selection alone is an ethical concern for many couples.

If you believe you and your partner could benefit from PGD testing or you have concerns about genetic disorders or the likelihood of defects occurring, check with a Colorado fertility clinic for further assessment.  A Colorado reproductive endocrinologist can discuss with you the benefits of this kind of testing and determine if you are a candidate for PGD screening.