The human genome consists of approximately 20,000 to 25,000 genes containing genetic information encoded in DNA. This genetic code serves as a blueprint for the synthesis of proteins, which are essential macromolecules that regulate fundamental bodily functions such as development, growth, digestion, energy production, and structural support. However, deviations or changes from this blueprint, in the form of mutations in the DNA, can lead to the production of faulty or missing proteins, potentially resulting in genetic disorders. Genetic disorders are generally classified into three main types: monogenic (single gene) disorders, chromosomal disorders, and complex disorders involving two or more genes. Preimplantation testing for monogenic disorders (PGT-M) is used to detect single gene disorders, which often ‘run in the family’.
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What is it?
Preimplantation testing for monogenic disorders, or PGT-M, is a specialised genetic test that can seamlessly integrate into the in vitro fertilisation (IVF) process. This cutting-edge technology is used to screen embryos for specific mutations associated with monogenic disorders. By analysing the genetic material of embryos, PGT-M enables couples or individuals to identify embryos that are potentially unaffected by a specific genetic disorder. These healthy embryos can then be selected for transfer during the IVF process, thereby reducing the risk of passing the monogenic disorder on to the child. PGT-M is often recommended for couples who have a known family history of a specific genetic disorder. This state-of-the-art technology allows couples/individuals to make informed reproductive choices and minimise the risk of transmitting single gene disorders to the next generation, thereby contributing to the creation of healthier and genetically informed families. Examples of disorders most commonly screened for include Fragile X Syndrome, Cystic Fibrosis, Sickle Cell Anaemia and even BRCA1 and BRCA2 mutations.
Who's it for?
While monogenic diseases are generally rare, there are circumstances where PGT-M testing is recommend in your IVF journey. This testing will allow for the selection of embryos that do not have mutations associated with a specific monogenic disorder. PGT-M is advised in the following scenarios: (1) if you or your partner have a known family history of a specific monogenic disorder, (2) if you or your partner are known carriers of a mutation that is associated with a monogenic disorder, (3) couples who previously had a child affected by a monogenic disorder, (4) individuals of advanced maternal (over 35 years of age) or paternal age (over 40 years of age), and (5) individuals/couples from certain ethnic or population groups with a higher risk of specific genetic disorder. It is important to consult with your IVF clinic for professional advice tailored to your individual needs.
When is it done?
PGT-M testing is done in conjunction with your fertility clinic as part of the IVF process. Following fertilisation, the developing embryos are cultured in a laboratory for five to six days until they reach a blastocyst stage. At this point, an experienced embryologist will biopsy a few cells from the outer layer of each blastocyst (i.e. cells that will form the placenta) which will be sent to FutureGen laboratories for PGT-M. The biopsy procedure will not harm the embryos, and the embryos will continue to develop normally while genetic testing is performed to identify mutations associated with monogenic disorders. Once the results for PGT-M are available, only unaffected embryos will be selected for uterine transfer. PGT-M is not a routine part of the IVF process and your reproductive specialist and/or genetic counsellor will advise on whether testing is recommended based on your individual medical history and genetic risk profile.
How does it work?
FutureGen laboratories will screen embryos for mutations associated with specific monogenic disorders and provide a detailed report of the results to the referring clinician. PGT-M is typically performed in conjunction with PGT-A to also assess embryos for chromosomal abnormalities. Together, these tests provide a more comprehensive assessment of the embryos. At FutureGen, our commitment to excellence is reflected in our use of state-of-art technology, adherence to stringent testing guidelines, and ethical conduct. We take pride in our ability to deliver accurate and reliable results in a timely and efficient manner, ensuring that you receive the information needed to make informed decisions about your reproductive journey.
What is PGT-M?