CARE Fertility offers preimplantation genetic testing, PGT, a technique used to identify genetic defects in embryos created through in vitro fertilization (IVF) before pregnancy. It is done as part of the IVF process.
CARE Fertility had the first pregnancy in the region following embryo biopsy and PGT for cystic fibrosis.
PGT involves taking multiple cells from a newly developing embryo and analyzing its genetic makeup. This test helps to find chromosomal and genetic disorders early. It is an excellent opportunity for couples who are at risk for transmitting genetic disease to their children.PGT must be done in conjunction with in vitro fertilization. PGT helps CARE Fertility embryologists to choose the healthiest embryos for implantation, thereby increasing the chance of successful pregnancy and reducing the chance of genetic problems in the baby.
PGT is performed in the lab during the IVF process. After the egg and sperm are mixed in the lab, the resultant embryos are allowed to grow for several days. Cells from the developing embryos are then extracted from each embryo and its genetic makeup is analyzed.
PGT screens for genetic abnormalities that can cause miscarriage or that may prevent pregnancy from occurring while also checking for certain chromosomal or single gene diseases, such as Down's Syndrome or Sickle Cell Anemia.
PGT is most commonly utilized to screen for chromosomal abnormalities or aneuploidy screening. CARE Fertility offers optimized technology that can detect abnormalities in all 23 pairs of chromosomes. In addition, embryo biopsy is performed on day 5 of embryo culture which enables the embryologist to remove multiple cells increasing the precision of the test. Screening results are available in less than 24 hours of embryos biopsy allowing a fresh embryo transfer to occur on day 6 of embryo culture.
There are three types of PGT.
PGT-A (aneuploidy). A genetic test designed to increase the chance of IVF success or implantation.
PGT-A, or preimplantation genetic testing for aneuploidies, is a genetic test performed on embryos produced through IVF. While PGT-A is appropriate for the vast majority of people undergoing IVF, we recommend older female patients with an increased risk of oocyte aneuploidy and some men with high sperm DNA fragmentation to have this test.
PGT-A gives information about embryos’ genetic health to help your CARE Fertility team select the best embryo for transfer and improve your chance of achieving a successful pregnancy. PGT-A was formerly known as PGS, preimplantation genetic screening.
PGT-A identifies embryos with the correct number of chromosomes (also called euploid embryos), so the team can select the embryo with the best chance of leading to IVF success.
PGT-M (mono-genetic disorders). A genetic test designed to reduce the risk of having a child with an inherited condition.
For people who know they are at increased risk of passing on a specific genetic condition, PGT-M, or preimplantation genetic testing for monogenic/single gene defects, can be performed prior to pregnancy to greatly reduce the risk of having an affected child. PGT-M for single gene disorders involves testing embryos created through in vitro fertilization (IVF) and then transferring unaffected embryos.
PGT-M was formerly known as PGD, preimplantation genetic diagnosis.
PGT-M tests are created uniquely for each family. PGT-M can be performed for nearly any single gene disorder as long as the specific familial mutation has been identified and appropriate family members are available for test preparation.
PGT-SR (structural rearrangements). A genetic test designed to detect inherited rearrangements and increase the chance of a successful pregnancy.
Chromosome rearrangements can be inherited or can happen spontaneously. Many carriers of balanced chromosome rearrangements are healthy and are unaware of their carrier status until they try to have children.
Chromosomal rearrangements are changes from the normal size or arrangement of chromosomes, which are the structures that hold our genetic material. People with chromosome rearrangements are at an increased risk of producing embryos with the incorrect amount of genetic material, which typically do not lead to a successful pregnancy.
For people with a chromosomal rearrangement, PGT-SR, or preimplantation genetic testing for chromosomal structural rearrangements, can be performed to improve the chance of establishing a healthy pregnancy. PGT-SR involves testing embryos created through in vitro fertilization (IVF) and then transferring only normal embryos. PGT-SR was formerly known as PGD, preimplantation genetic diagnosis.
PGT-SR is appropriate for people who have a chromosome rearrangement, and thus are at risk of creating embryos with the incorrect chromosome number or structure. You may consider PGT-SR for chromosome rearrangements if you had a child or pregnancy with a chromosome rearrangement or if you or your partner are a carrier of an:
- Reciprocal translocation
- Robertsonian translocation