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:
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IVF Cycle
Eggs are fertilized with sperm through in vitro fertilization (IVF) to create embryos.
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Embryo Growth
The embryos are cultured and grown in the lab until they reach the blastocyst stage (5–6 days after fertilization).
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Cell Biopsy
An embryologist carefully removes a few cells from each blastocyst for testing.
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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).
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Embryo Freezing
While awaiting test results, all embryos are frozen (cryopreserved) to preserve them for later use.
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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.
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Embryo Transfer
In a later, separate cycle, a healthy (unaffected) embryo is thawed and transferred into the uterus to attempt pregnancy.
