Scientist using microscope

Embryo Testing

We are now able to select the healthiest embryo for transfer through these genetic testing methods. 

Embryo Testing

We offer two types of genetical tests for the embryos at our clinic: 

  1. Preimplantation Genetic Diagnosis (PGD)

  2. Next-Generation Sequencing (NGS)

Below you can read about each genetic test and Learn more about it.

Surgical Loupes

Preimplantation Genetic Diagnosis (PGD):

PGD Preimplantation genetic testing (PGD) is for testing monogenic diseases. Suppose a couple has a known illness in their family caused by a single gene mutation. They can consider PGD to test each embryo and determine whether each has inherited the mutation and disease predisposition. When both the female & male partners are carriers of the same autosomal recessive disease and wish to identify whether their embryos have inherited both mutations, PGD can also be used.

PGD can also be used for gender selection as it screens the X and Y chromosomes. PGD also tests the following diseases Sickle Cell Anemia, Beta Thalassemia, Fragile X Syndrome, Cystic Fibrosis, and Muscular Dystrophy. 

Next-Generation Sequencing (NGS):

 

Preimplantation genetic screening (PGS) or Next-Generation Sequencing (NGS) is now frequently referred to as preimplantation genetic testing for aneuploidy. This test screens the embryo for chromosomal abnormalities. A chromosomally normal embryo will have 46 chromosomes. Any deviation from this number will likely result in failed implantation, miscarriage, or a viable chromosome syndrome-like Down syndrome.

 

Although this might sound alarming, chromosomal abnormalities are commonplace. Over a third of all embryos from a 30-year-old woman are detected to have a chromosomal abnormality. As women get older, this proportion rises to approximately 80% abnormal by the time a woman is 40. For this reason, women who try to get pregnant later in life may experience difficulties conceiving, an increased chance of miscarriage, and an increased chance of having a child with a chromosomal syndrome-like Down syndrome, compared to a younger woman. As a result, reproductive endocrinologists often recommend PGS to women in their late thirties or early forties.

When Should You Consider PGS or PGD?

Couples can benefit from embryo testing for a variety of reasons. For example, if a woman is experiencing recurrent miscarriage either naturally or as part of IVF, it may be helpful for doctors to screen her embryos for chromosomal abnormalities. Furthermore, there is increasing evidence that NGS benefits women over 35 undergoing IVF treatment. As discussed above, PGD is helpful for couples who have a known genetic mutation in their family.

 

If you have any questions or concerns about embryo testing, you can contact us and book a free consultation call to discuss further options with our fertility specialists. They will be able to advise you as to which test is appropriate given your fertility history and specific circumstances.

Genetic Tests results:

  • In PGD, the patient can have a fresh embryo transfer as a biopsy is taken from the embryo on day 3 of fertilization to test it genetically. The result will be out on Day 5 of fertilization. 

  • In NGS, the biopsy will be taken on day 5 of fertilization from the embryos. The result will be out in an estimated period of 21 days.