What Is Preimplantation Genetic Diagnosis?

Preimplantation Genetic Diagnosis (PGD) is performed for medical purposes in cases where the procedure can help increase the chances of the mother carrying a healthy pregnancy to full term. In these cases, PGD will screen for various genetic anomalies, such as aneuploidy and single gene disorders, and reduce the risk of families passing certain genetic conditions on to their children. The diseases most commonly tested for include: Cystic Fibrosis, Fragile X, Myotonic Dystrophy, Tay-Sachs and Thalassemia.  
PGD is also commonly performed as part of in-vitro fertilization programs as a way to help parents choose the sex of their new baby and either balance their families or simply have a child of their desired sex. With this specialty procedure, our skilled and experienced medical professionals can assess early-stage embryos, which have been produced through IVF, beneath a microscope to determine their sex prior to uterine transfer. This way, we can select embryos of only the desired sex to be implanted into the mother’s uterus.

What is Preimplantation Genetic Screening?

Preimplantation Genetic Screening (PGS) applies PGD technology to increase the odds of obtaining a healthy pregnancy for mothers that have experienced recurrent miscarriages or infertility. During the screening, embryos are assessed for aneuploidy, an abnormal number of chromosomes, in order to identify chromosomally normal embryos to transfer to the mother’s uterus. With the help of this procedure, many mothers have achieved successful, healthy pregnancies.

Risks of PGD and PGS

When performed by a trained and experienced medical professional like those employed at Beta Plus Fertility, there are relatively low risks involved with PGD or PGS. However, as with every program and procedure, our team will discuss these options with you before beginning any treatment to ensure you fully understand any risks that may be associated. In general, there are known chromosomal inconsistencies from cell to cell in embryos, which may cause false negative or false positive results.
These results may sometimes influence the accuracy of the procedure or even reduce the overall success rate of an IVF treatment. In certain cases, such as those where there are a limited number of embryos, the treatments may not be recommended in order to maintain the highest possible success rates; in others, however, they can be beneficial treatments to help obtain a healthy pregnancy. The pros and cons should always be discussed with your doctor prior to beginning any program.

Are You a Candidate for PGD or PGS?

Your doctor will discuss your needs, wants and unique situation with you to determine a course of treatment that is best suited to achieve your desired outcome. The following indications are typically associated with PGD or PGS and may indicate you are a candidate for the treatment as part of your program:

Indications for PGD

  • Abnormal chromosome numbers
  • Genetic mutations
  • Prevent the spread of genetic disease to offspring
  • Recurrent miscarriage
  • Select sex of new baby

Indications for PGS

  • Family history of chromosomal abnormalities
  • History of recurrent miscarriage
  • History of unsuccessful IVF treatments
  • Mother is over the age of 35