Preimplantation Genetic Testing (PGT)
What is PGT-A
PGT-A, or preimplantation genetic testing for aneuploidy, is a genetic test performed on embryos produced through IVF.
PGT-A provides information about the genetic health of the embryos to help the medical team select the best embryo for transfer and improve your chances of achieving a pregnancy that results in a healthy live birth.
PGT-A was formerly known as PGS preimplantation genetic screening.
PGT-A examines the amount of genetic material within the embryos.
This genetic material is housed within structures called chromosomes. Chromosomes are very important for healthy growth and development. Embryos with the wrong number of chromosomes (also called aneuploid embryos) usually do not result in a successful pregnancy or can lead to the birth of a child with a genetic condition or in miscarriages.
Embryos with the correct number of chromosomes (also called euploid embryos) have a better chance of leading to a successful pregnancy. PGT-A identifies embryos with the correct number of chromosomes, so your care team can select the embryo with the best chance of leading to IVF success.
PGT-A is appropriate for the vast majority of people undergoing IVF. All women are at risk of producing chromosomally abnormal embryos. As a woman ages, the potential for chromosomally abnormal embryos increases significantly, regardless of the number of embryos produced. PGT-A can help women of all ages increase their chances of having a successful pregnancy.
Benefits of PGT-A
Increased chance of pregnancy Lower risk of miscarriage More confidence in transferring a single embryo, avoiding the health risks associated with twin or triplet pregnancies Reduced number of IVF cycles needed to achieve pregnancy, which could reduce the time to pregnancy and costs of additional cycles.
PGT-A Results We are the most advanced embryo screening technology available, providing the most complete picture of chromosomal health. For each embryo screened, PGT-A results will be divided into one of three categories: euploid, aneuploid or mosaic. This information can help your care team select the best embryo for transfer.
What is PGT-SR?
Chromosomal rearrangements are changes from the normal size or arrangement of chromosomes, which are the structures that contain our genetic material. People with chromosomal rearrangements have an increased risk of producing embryos with the wrong amount of genetic material, which usually do not lead to a successful pregnancy. For people with a chromosomal rearrangement, PGT-SR, or preimplantation genetic testing for structural chromosomal 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.
WHO has determined that PGT-SR is appropriate for people who have an altered chromosome structure and are therefore at risk of creating embryos with incorrect chromosome structure.
You may consider PGT-SR if you have had a child or pregnancy with a chromosome structure disorder or if someone in the couple is a carrier of: Inversion, Reciprocal Translocation or Robertsonian Translocation.
What are structural chromosomal rearrangements?
Chromosomal structural rearrangements can be inherited or can occur spontaneously. Many carriers of balanced chromosomal rearrangements are healthy and are unaware of their carrier status until they try to have children. Carriers of balanced rearrangements are at risk of producing embryos with the wrong amount of chromosomal material, which usually do not lead to a successful pregnancy. PGT-SR can help identify embryos with the correct amount of chromosomal material that are more likely to lead to a successful pregnancy and a healthy live birth. The three main types of rearrangements we tested are: reciprocal translocations, Robertsonian translocations, and inversions.
Reciprocal translocations Reciprocal translocations occur when pieces of genetic material separate from two different chromosomes and exchange places. Individuals carrying a balanced translocation can create embryos that have the same balanced translocation, the unbalanced form of the translocation (where there is a gain or loss of chromosomal material), or a completely normal set of chromosomes. If one of the parents is a carrier of a reciprocal translocation, about 80% of the resulting embryos will contain an incorrect amount of genetic material.
Robertsonian translocations Robertsonian translocations occur when two chromosomes join together to form one large chromosome, giving an overall chromosome count of 45 instead of 46. This pairing occurs most frequently between chromosome numbers 13/14 and 14/21, and usually results in conditions such as Down’s translocation syndrome, trisomy 13 or uniparental disomy (UPD).
Inversions Inversions are chromosomal rearrangements involving only one chromosome. In an inversion, a segment of a chromosome is flipped and reinserted upside down. Individuals with an inversion can create embryos with missing or missing chromosome segments. For PGT-SR for chromosomal rearrangement depending on the specific case and provider preference. Most rearrangement cases: No additional test preparation required No additional testing of family members required Can have 24-chromosome PGT-A testing added at no additional charge*.
What is PGT-M?
For individuals who know they have an 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.
According to WHO PGT-M is suitable for people who are at high risk of transmitting a specific single genetic disorder.
You may consider PGT-M if: You and your partner are carriers of the same autosomal recessive condition (e.g., cystic fibrosis) You are carriers of an X-linked condition (e.g., Duchenne muscular dystrophy).
You or your partner have an autosomal dominant condition (e.g., Huntington’s disease) You or your partner have a mutation associated with an inherited cancer syndrome (e.g., BRCA1 & 2) PGT-M testing involves a thorough examination of both the mutation an individual carries and the area of the surrounding chromosome, shown above as the colored segment of each chromosome. Each PGT-M test design is unique and family-specific, so DNA samples will be requested from both partners, and often from additional family members, in order to design a test. Linkage analysis is then used to determine the “genetic fingerprint” of the mutation and diagnose each embryo tested as affected or unaffected.
WHO has determined that PGT-SR is appropriate for people who have an altered chromosome structure and are therefore at risk of creating embryos with incorrect chromosome structure.
You may consider PGT-SR if you have had a child or pregnancy with a chromosome structure disorder or if someone in the couple is a carrier of: Inversion, Reciprocal Translocation or Robertsonian Translocation.
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