What is Preimplantation Genetic Testing?
Embryos produced by In Vitro Fertilization (IVF) are grown for 5-6 days until they reach the blastocyst stage. In the blastocyst stage, the embryo is composed of two different kinds of cells:
- Inner cell mass (ICM): these cells make the baby
- Trophoblast: these cells support implantation and help make the placenta
For genetic testing, we perform an embryo biopsy to remove some of the trophoblast cells from the blastocysts. The blastocysts are frozen until the genetic analysis for each embryo is completed.
The trophoblast cells are then prepared by our embryologist and shipped to a specialty genetic testing lab. The lab will already have information about the parents and their families in order to better identify the abnormal gene. At the lab, the cells are either tested for PGT-A (formerly PGS), PGT-M (formerly PGD), or both.
Doctors at our center will review the genetics report and, in consultation with the patients, advise which embryos are normal and available for embryo transfer.
What's the Difference Between PGT-A and PGT-M?
Preimplantation genetic testing for aneuploidy (PGT-A) provides information about the embryo’s chromosomes to detect Trisomy, whereas preimplantation genetic testing for monogenetic/single-gene diseases (PGT-M) looks for the presence of a specific, disease-causing gene such Cystic Fibrosis or Sickle Cell.
PGT-A
PGT-A tests embryos for the presence and the correct number of every chromosome. Over 90% of our IVF patients utilize PGT-A as a part of their treatment plan.
Learn More About PGT-A
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