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With highly advanced techniques we're able to test the cells of your embryo, prior to transfer, to screen genetic abnormalities for your peace of mind.  

Who might consider

genetic testing?

  • Women over 35 who are undergoing IVF

  • Women who’ve experienced recurrent miscarriages

  • Women who’ve experienced multiple failed IVF cycles

  • Parents who are known carriers of a genetic disease

  • Parents who have a child with a genetic disease

  • Parents who are interested in gender selection or family balancing

It's confusing, right?

Let's break it down ... 

 

Both PGS and PGD are performed on cells from embryos in our embryology lab, but they have different purposes and screen for different genetic problems. PGS looks for potential genetic abnormalities when there are no known inherited disorders. PGD, on the other hand, is used to detect a known specific disorder that has a high probability of being passed down to your baby. 

 


Preimplantation Genetic Screening (PGS)

One of the most common reasons for the failure of embryos to implant and of miscarriage are chromosomal abnormalities, which can lead to failed implantation or early loss of pregnancy.  Screening enables us to identify embryos with normal structure and the best chance for successful implantation.

With PGS, a biopsy is performed on embryos in conjunction with your IVF cycle, after fertilization but prior to implantation. This allows screening of the embryos for chromosomal abnormalities in order for the best embryo to be chosen and transferred to your womb. 

 

 

Preimplantation Genetic Diagnosis (PGD)

When one or both parents carry a known genetic mutation, they may seek to test their embryos created with IVF in order to select a non-affected embryo for transfer. In some cases, you may be a carrier for a disease without having the disease yourself.
 

 

PGD tests for:


 

  • Neurofibromatosis (NF-1, NF-2)

  • Polycystic kidney disease (PKD)

  • Cystic fibrosis (CF)

  • Fragile X syndrome

  • Marfan syndrome

  • Breast cancer (BRCA1 & BRCA2)

  • Hemophilia A

  • Beta-thalassemia

  • Sickle cell disease

  • Spinal muscular atrophy (SMA)

  • Oculocutaneous albinism

  • Primary carnitine deficiency

  • Hyper IgM syndrome

  • Kell antigen


  • Huntington disease (HD)

  • Monilethrix

  • Torsion dystonia

  • Familial hyperinsulinism

  • Wolfram syndrome

  • Galactosemia

  • Myotonic dystrophy

  • Alpers syndrome

  • Epidermolysis bullosa

  • Meckel-Gruber

  • Machado-Joseph ataxia

  • Wiskott-Aldrich

  • Alpha-1-antitrypsin

  • Hereditary hemorrhagic telangiectasia

PGD is a significantly more complex process than PGS since it examines for individual genes. It is recommended for couples that have a genetic predisposition and/or have any probability of passing down a known genetic abnormality. Any couple with a family history of aneuploidy (abnormal number of chromosomes) which results in miscarriage, birth defects, or Down Syndrome should be screened. Families that have a history of single-gene defects—such as cystic fibrosis, sickle cell anemia, and muscular dystrophy—should also consider PGD testing.

 

Almost all chromosomal abnormalities can typically be diagnosed by PGD. For a more complete list of genetic diseases that can be screened, or to determine if you would benefit from PGD, please consult with Dr. Wells or Dr. Juneau

 

 

 

 

 

Both PGS and PGD have limitations and are an extra step in the IVF process. We'll work with you to evaluate the cost of genetic testing, creating a personalized plan of treatment if either test should be considered.