Genetic Testing

What is Aneuploidy?

Let’s start with the basics; every cell in your body has 23 pairs of chromosomes, except for sperm and eggs, which are unpaired. This is because as sperm and egg cells meet, they pair and combine to form an embryo: one chromosome from mom and one from dad. Sometimes, the protein machines inside the cells don’t work as they should, and an embryo may have an unpaired chromosome or an extra chromosome: a condition called aneuploidy.

This condition only increases with age, where the chances of having an aneuploid embryo is 43% in women 25-30 years, and up to 80-90% in women 43-46 years. Luckily, pre-implantation genetic screening, or PGS for short, can help identify these abnormal embryos to transfer only the healthiest candidates for a successful pregnancy.

What are the Types of Pre-Implantation Genetic Testing?

Within PGS, there are two types of Pre-Implantation Genetic Testing: PGT-A and PGT-M. As you may likely guess, the “A” in PGT-A stands for Aneuploidies, testing specifically for the number of chromosomes and the sex of the embryo. PGT-M tests for Monogenic, or single gene, disorders. Think of PGT-A as quality control check of the chromosomes and PGT-M as a google search for a specific gene.

What is the PGT-A Process Like?

The process for PGT-A Genetic Testing is simple and streamlined. Once an egg has been successfully fertilized by our expert Embryologists, Generation Next Fertility will incubate the resulting embryos for 6-7 days until they are mature enough to be biopsied.

The Embryologist will then safely and carefully remove a few cells from the section of the embryo that will form the placenta. This biopsy will not affect the development of the growing embryo and will be kept developing inside the embryo incubators while the biopsied sample is sent off to a laboratory to perform PGT-A testing.

After 9-10 business days, the soon-to-be parents will receive an email reporting on the genetic profile and sex of the embryo. Patients also have the option to omit the sex result of their embryos if they want to be pleasantly surprised. After the genetic profile is complete, the embryos most likely to result in success are selected for transfer at the next cycle or can be frozen for future use.

Should I Get PGT-M?

PGT-A is a well-refined procedure, with an accuracy rate of 98%. It’s important to note, however that false positives and false negatives do occur, and PGT-A is unable to detect single gene disorders such as cystic fibrosis, sickle cell anemia, or Tay Sachs disease. For this reason, a prenatal diagnosis through PGT-M is a good recommendation to confirm the results of PGT-A and to ensure that the resulting embryos are healthy and free of any genetic issues.

What About Parental Genetic Testing?

It is always a good idea prior to pursuing any fertilization procedures to receive a genetic profile of carrier screenings. The carrier screenings at Generation Next Fertility give an insight into the 283 most common mutations to single out any silent pathogenic carrier genes that may be activated during fertilization. Getting screened will allow patients to know what to expect in relation to the genetic profile of the embryo.

When it comes to baby making, we at GNF ensure that every patient receives expert care and a comprehensive plan of action to pave the road to parenthood. Genetic Testing allows patients to know precisely what their risk factors are in order to create a healthy, happy, successful pregnancy!