Preimplantation Genetic Testing-Mutation (PGT-M) is genetic testing of five or six-day-old embryos conceived with IVF to avoid transmission of a serious inherited disease such as Cystic Fibrosis or Muscular Dystrophy to a child. Here is the process of PGT-M testing:
IVF Cycle
Eggs are fertilized with sperm through in vitro fertilization (IVF) to create embryos.
Embryo Growth
The embryos are cultured and grown in the lab until they reach the blastocyst stage (5–6 days after fertilization).
Cell Biopsy
An embryologist carefully removes a few cells from each blastocyst for testing.
Genetic Testing
(PGT-M)
The biopsied cells are sent to a specialized molecular biology laboratory, where they are tested for the specific abnormal gene causing the inherited disease (like Cystic Fibrosis or Muscular Dystrophy).
Embryo Freezing
While awaiting test results, all embryos are frozen (cryopreserved) to preserve them for later use.
Results Received
The laboratory sends the genetic testing results back to the fertility clinic, identifying which embryos are unaffected (normal) and which carry the disease.
Embryo Transfer
In a later, separate cycle, a healthy (unaffected) embryo is thawed and transferred into the uterus to attempt pregnancy.