Fertility Answers can screen embryos for genetic disorders with preimplantation genetic testing for monogenetic disease, or PGT-M

The mission of Fertility Answers is to help our patients build happy and healthy families. To aid in this goal, the physicians at our Louisiana fertility centers will sometimes recommend preimplantation genetic testing for monogenetic disease, PGT-M, in conjunction with IVF. For couples who carry a gene for a known genetic disorder, PGT-M can make all the difference.

PGT-M is different from preimplantation genetic testing for aneuploidy, PGT-A

Preimplantation genetic testing for aneuploidy (PGT-A) and preimplantation genetic diagnosis for monogenetic disease (PGT-M) are both performed during an IVF cycle between the steps of egg retrieval and embryo transfer. However, the physicians at our Louisiana fertility centers want patients to understand that these are entirely different laboratory procedures.

• PGT-A involves screening embryos to determine if they have the correct number and placement of chromosomes.
• PGT-M is used when patients know they have or carry a genetic disorder such as cystic fibrosis or sickle cell disease. This technique can identify which embryos are affected by the disorder and which are unaffected.

The process of PGT-M begins with preconception genetic testing

Our Louisiana fertility centers recommend preconception genetic testing to all couples who are thinking about conceiving. This form of testing can identify if a couple is at risk of transmitting an inheritable genetic disorder to their children. Our fertility specialists have worked with many couples who had no idea that they were a carrier until they had preconception testing.

Preconception testing requires both the male and female partner to provide a blood or saliva sample. Then, an outside reference genetics laboratory processes the sample.

If testing confirms that a couple is at risk of transmitting a genetic disorder, the genetics lab will use a known probe or it will use the couple’s genetic material to create a genetic probe for a specific condition. Once the probe is ready, an embryologist will combine it with a few cells from the couple’s IVF embryos to determine which embryos are impacted by the disorder.

The reference genetics lab will send the PGT-M results to Fertility Answers. These results tell our fertility specialists which embryos are most likely to develop into healthy babies who are unaffected by the genetic disorder in question.

If you’d like more information about preimplantation genetic testing for monogenetic disease, please contact us today. Our fertility specialists are happy to answer all of your questions about genetic screening and PGT-M.