PGT-M can be performed for genetic disorders caused by single genes that are passed from parent to child through one of a few different types of inheritance patterns: 

  1. Autosomal dominant disorders
  2. Autosomal recessive disorders
  3. X-linked disorders

PGT-M is a laboratory test used to identify pathogenic variants in embryos created during the in vitro fertilization (IVF) process. The goal of PGT-M is to identify which embryos contain the pathogenic variant(s) and which embryos do not (click here to watch a brief video about PGT). This sorting tool is used to significantly reduce the chances of transferring an embryo with a specific genetic condition.

A small number of cells are removed (biopsied) from each embryo and sent to a genetic testing laboratory for PGT-M testing.  The cells are taken from a part of the blastocyst called the trophectoderm, this is the part of the embryo that will eventually form the placenta, not the fetus.  These cells are considered representative of the rest of the embryo. The embryos themselves will stay frozen at the fertility clinic while the PGT-M process is completed, which generally takes 2-3 weeks.  A report is sent back to the clinic identifying affected and unaffected embryos. When ready to initiate the pregnancy, an embryo that did not inherit the genetic condition would be selected, thawed, and transferred to the uterus of a reproductive partner or their gestational carrier.