Preimplantation Genetic Testing PGT

Prospective parents may choose to have their embryos tested for potential problems before they are implanted. These tests are not recommended for all patients, but are ideal for couples who are concerned about the possibility of passing on genetic diseases to their children. Two common procedures are Preimplantation Genetic Testing for Monogenic/Single Gene Defects (PGT-M) (also known as PGD), in which embryos are genetically analyzed for specific mutations carried by the parents (e.g. Cystic Fibrosis), and Preimplantation Genetic Testing for Aneuploides (PGT-A) (also known as PGS), in which each embryo is tested to ensure it has 23 pairs of chromosomes.

In most cases, multiple embryos are produced and available for testing (an average of 3). At day 5 or 6 of embryonic development, a biopsy is performed and several cells from each embryo are sent to a specialized lab. Once the test results are received, patients may begin a frozen embryo transfer cycle to prepare the uterus for the transfer of a cryopreserved embryo that has been tested and appropriate for transfer.

Preimplantation Genetic Testing for Monogenic/Single Gene Defects (PGT-M)

Through PGT-M, embryos are able to be screened for specific inherited genetic diseases. Our Preimplantation Genetic Diagnosis program, first introduced over a decade ago, combines our expert technology and IVF experience with access to advanced genetic testing and counseling.

Preimplantation Genetic Testing for Aneuploides (PGT-A)

Many chromosomally abnormal embryos either do not implant or result in pregnancy loss shortly after implantation. The use of PGT-A allows for embryos that have been screened to be transferred back into the woman's uterus, increasing the chance of achieving a full-term pregnancy.

PGT-A is most commonly performed in the following situations:

• Recurrent miscarriages or repeated unexplained IVF embryo implantation failure - PGT-A testing can determine which embryos are the most likely to result in a healthy pregnancy.
• Advanced maternal age - chromosomal abnormalities due to advancing maternal age are more likely to occur in women over the age of 35. PGT-A testing can determine the number of the chromosomes and determine which embryos are the most likely to result in a healthy pregnancy.

We recommend that those patients interested in pursuing either PGT-M or PGT-A have a phone consultation with a genetics counselor affiliated with the testing laboratory prior to their IVF cycle.