Preimplantation Genetic Testing for Monogenic/Single Gene Disorders


What is PGT-M?

PGT-A, preimplantation genetic testing for aneuploidies, is a genetic test performed on embryos created through IVF to screen for chromosomal abnormalities. PGT-A, formerly known as preimplantation genetic screening (PGS), is used to screen embryos for extra or missing chromosomes. Embryos with extra or missing chromosomes, referred to as aneuploid, often fail to implant and lead to miscarriage or, if implantation is successful, lead to the birth of a child with a genetic condition. Embryos found to be chromosomally normal are referred to as euploid and are the most likely to lead to a successful pregnancy.

Who is it for?

You may want to consider PGT-M if you or your partner is at high risk of passing down a specific genetic disorder. PGT-M may be appropriate if:

  • You have had a child or pregnancy with a genetic condition

  • You and your partner are carriers of the same autosomal recessive condition

  • You or your partner has an autosomal dominant condition

The PGT-M process:

PGT-M process starts with a Review of your genetic report(s). It will also be determined if genetic reports of additional family members will be required for testing.


1. IVF

In vitro fertilization is performed and embryos are incubated until they reach the blastocyst stage.


2. Embryo Biopsy

A small sample of cells is carefully biopsied from each embryo.


3. Blood Sample Collection

Small blood samples are collected from all necessary family members and sent to PacGenomics together with your embryo biopsy samples.


4. PGT-M

Testing is performed and results are sent to your physician in approximately four weeks.


5. Embryo Transfer

Embryos unaffected by the specific genetic disorder tested are selected for transfer.

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