Preimplantation Genetic Testing (PGT)

Couples undergoing in vitro fertilization (IVF) have the option to have PGT on their embryos to help select an embryo for transfer that is most likely to result in a successful pregnancy.

To perform this test, 5-6 cells are collected from the part of the embryo destined to become the placenta. Your embryos will be frozen and remain at your fertility clinic until the PGT results become available. Only the biopsied cells will be shipped to Mount Sinai for the genetic testing.

There are three types of PGT that can be used to screen the embryo for different genetic risks.

1) PGT-A

PGT-A is used to screen embryos for an abnormal number of chromosomes, also called aneuploidy. Aneuploid embryos have a high risk for failed implantation, first-trimester miscarriage or may lead to the live birth of a child with a genetic condition. PGT-A can be used to avoid transferring aneuploid embryos and increase the chance for a successful pregnancy and live birth.

2) PGT-M

PGT-M is used to screen embryos for a specific single-gene condition known to be affecting or be carried by one or both parent(s). This allows an embryo to be selected for transfer that minimizes or eliminates the familial genetic risk.

3) PGT-SR

PGT-SR is used to screen embryos for unbalanced structural rearrangements when a parent is known to be a balanced translocation carrier. This can be used to avoid the transfer of a chromosomally unbalanced embryo that would result in failed implantation, miscarriage or a liveborn with health problems.

Who should have this test?

PGT-A: Any couple undergoing an IVF cycle that produces embryos can have PGT-A. PGT-A is most likely to have reduced miscarriage rates and improve live birth rates for women greater than 35 years old.

PGT-M: Any couples in which one or both parents are known to be affected or be carriers for a single gene condition will benefit from PGT-M. The specific genetic variant(s) in the parent(s) must be known in order to perform PGT-M.

PGT-SR: Any couple in which one or both parents are known to be carriers for a balanced chromosome rearrangement will benefit from PGT-SR. The specific translocation(s) in the parent(s) must be known in order to perform PGT-ST.