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All About Embryo Genetic Testing

Infertility IVF

In Vitro Fertilization is one of the most common fertility treatment options available today, and when paired with embryo genetic testing, success rates continue to rise. Learn more about if this is the right option for you.

What is Pre-implantation Genetic Testing and should this be part of my IVF plan?

Pre-implantation Genetic Testing (PGT) is the process of removing a few cells from the part of the embryo (this is called embryo biopsy), and sending these cells to a specialized lab where the DNA contained is processed and tested. There are several reasons for embryo genetic testing. The most common type of PGT is PGT- A, (where A is for “aneuploidy,” meaning the embryo has an extra or missing chromosomes or small piece of chromosomes). Aneuploidy is the most common reason for an embryo to fail to implant, or for a pregnancy to end in miscarriage, and the risk increases with maternal age. In theory, by removing any embryos with aneuploidy, we can increase implantation rates, decrease miscarriage rates, and detect chromosomal abnormalities. Transferring embryos that have been screened for aneuploidy makes it more likely that a single embryo transfer will be successful, allowing us to transfer fewer embryos and avoid multiple pregnancies and all the complications that come with them.  

Sounds great. Why would anyone NOT want to have PGT-A as part of their IVF cycle plan?

Not every embryo grows enough cells to be biopsied, and some embryos could end up being discarded without being tested, even though they could have implanted and become normal babies. Furthermore, sometimes, after biopsy, the report is that some of the cells were normal, but some of the cells
were aneuploidy, a condition called “Mosaicism.” Whether or not mosaic embryos should be transferred to patients is still a controversial matter, but the latest reports suggest that while pregnancy rates are lower and miscarriage rates are higher, the resulting babies have been genetically normal, but the numbers are few.

PGT-A is NOT one-size-fits-all and whether it makes sense or not for an individual couple really depends on their individual risk for aneuploidy, their financial situation, religious beliefs, the plan for “what to do if our embryos are mosaic,” etc., and should be discussed case by case with their physician. PGT-A also requires embryo freezing, so cannot be performed on a fresh IVF cycle.

How about PGT-M and PGT-SR?

PGT-M is Pre-implantation genetic testing for mongenic/Single Gene disorders (such as cystic fibrosis or Tay-Sachs), and PGT-SR is Pre-implantation genetic testing for chromosomal structural rearrangements. These forms of PGT are much less commonly performed, as they are only appropriate for couples with specific genetic conditions.

At South Jersey Fertility Center, our team of fertility experts can help you navigate your IVF journey and choose the options that are best for you. Contact us today!

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