Your guide to comprehensive preimplantation genetic testing of embryos
by Isaac Glatstein, MD, MSc
Are you considering in vitro fertilization (IVF) as part of your journey to parenthood? In the ever-evolving landscape of reproductive medicine, preimplantation genetic testing (PGT) stands out as a revolutionary tool, offering prospective parents invaluable insights into their embryos’ genetic health.
As you embark on this path, understanding the three main types of PGT – PGT-A, PGT-M and PGT-SR – is crucial for making informed decisions about your IVF treatment plan.
No matter which type of preimplantation genetic testing you select, the critical point is that the information is available to you prior to embryo transfer. Preimplantation genetic testing is important to determining the most appropriate embryo to transfer in order to maximize your chances of having a healthy conception and baby. That’s because genetic abnormalities are a major cause of failure to conceive and to maintain a pregnancy. Such genetic issues may also cause serious birth defects in children.
PGT-A (aneuploidy screening): ensuring chromosome health
One of the most common causes of failed implantation and miscarriage in IVF is aneuploidy – a condition characterized by an abnormal number of chromosomes in an embryo. Nearly all embryos with aneuploidy either fail to implant or are associated with early pregnancy losses (miscarriage).
PGT-A, also known as aneuploidy screening, aims to identify embryos with chromosomal abnormalities before transfer of the embryos into the uterus to avoid both “failed IVF” cycles where the embryos do not implant or cases of actual pregnancy loss.
Reducing risks of miscarriage and birth defects like Down syndrome
During PGT-A, a small number of cells are biopsied from each embryo, typically on day 5 or 6 of development when the embryo is at the blastocyst stage. These biopsied cells are then analyzed to determine if the embryo has the correct number of chromosomes. By selecting chromosomally normal embryos for transfer, PGT-A significantly increases the chances of a successful pregnancy while reducing the risk of miscarriage and chromosomal disorders in the child, such as Down syndrome, among other conditions.
For patients or couples undergoing IVF, PGT-A offers peace of mind by enhancing the likelihood of a healthy pregnancy and reducing the emotional toll of failed implantation or pregnancy loss. By selecting the most viable embryos for transfer, PGT-A optimizes the success rate of each IVF cycle, bringing hopeful parents closer to their dream of starting a family.
PGT-M (monogenic disorder screening): looking for specific inherited genetic disorders
Some patients or couples may be at risk of a having a child with a specific birth defect. This may be due to one of the partners carrying a specific gene, or due to a family history of genetic disorders or perhaps due to genetic carrier testing, which has identified that both partners carry a recessive gene mutation. The common denominator in each of these instances is that they are at higher risk of passing along a genetic condition to their offspring.
For these prospective parents, the fear of passing on these conditions to their children can be overwhelming. PGT-M, also known as monogenic disorder screening, provides a solution by enabling the detection of specific genetic mutations or disorders in embryos created through IVF.
Protecting against cystic fibrosis, sickle cell anemia and other birth defects
During PGT-M, genetic testing is performed to identify embryos carrying a known genetic mutation that predisposes them to inherited diseases such as cystic fibrosis, sickle cell anemia or Tay-Sachs disease, among many other conditions. By identifying affected embryos, couples can make informed decisions about which embryos to transfer, thereby reducing the risk of passing on genetic disorders to future generations.
PGT-M empowers couples with the knowledge and control to prevent the transmission of hereditary conditions to their offspring. By screening embryos for specific genetic mutations, PGT-M not only minimizes the risk of genetic disease but also offers hope for a healthier future for generations to come. Monogenic disorders can also prevent conception and result in miscarriage. It should be noted that at Conceive NJ, all patients whose embryos are tested for PGT-M will also be screened for PGT-A, thereby reducing the risk of both genetic as well as chromosomal abnormalities.
PGT-SR (structural rearrangement screening): detecting chromosomal abnormalities
In some cases, individuals may carry structural rearrangements of their own chromosomes, such as translocations or inversions, which can lead to infertility or recurrent miscarriages. PGT-SR, also known as structural rearrangement screening, is designed to identify embryos with these chromosomal abnormalities, allowing couples to make informed decisions about their fertility treatment.
During PGT-SR, embryos created through IVF are screened for structural rearrangements by analyzing their chromosomal composition. By identifying embryos with balanced or unbalanced translocations, PGT-SR helps couples understand their reproductive options and select embryos with the highest likelihood of implantation and healthy development.
For couples grappling with the challenges of infertility or recurrent pregnancy loss due to chromosomal abnormalities, PGT-SR offers hope and a pathway to building a family. By detecting structural rearrangements in embryos, PGT-SR equips couples and fertility specialists with valuable information to optimize the success of IVF treatments and increase the chances of a successful, full term and healthy pregnancy.
Building a brighter future with preimplantation genetic testing
As you embark on your IVF journey, incorporating preimplantation genetic testing into your treatment plan can significantly enhance your chances of achieving a successful pregnancy while mitigating the risk of genetic disorders and chromosomal abnormalities. By understanding the three main types of PGT – PGT-A, PGT-M, and PGT-SR – you can make informed decisions alongside your fertility specialist, ensuring the best possible outcome for you and your future family.
At Conceive NJ, we are committed to providing comprehensive care and personalized treatment options to help you realize your dream of parenthood. Contact us today to learn more about how PGT can benefit your IVF journey and schedule a consultation with our experienced team of fertility experts.
Remember, knowledge is power, and with PGT, you have the power to build a brighter future for your family.