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Preimplantation genetic testing (PGT) provides a way to test the DNA of embryos created through IVF for specific genetic diseases based on the risks that apply to a particular individual or couple.

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There are three types of PGT that a doctor may recommend depending on the risks that exist for a patient or couple:

  • PGT for aneuploidy (PGT-A) is used to screen embryos for sporadic (random) chromosomal abnormalities that can lead to failed implantation after an embryo transfer, miscarriage, or the birth of a child with a chromosomal disorder, such as Down syndrome.

  • PGT for structural rearrangements (PGT-SR) is also used to test embryos for chromosomal abnormalities; however, more specifically, the goal is to identify embryos with abnormalities related to a balanced chromosomal rearrangement (such as a translocation or inversion) that is carried by one of the parents.

  • PGT for monogenic disorders (PGT-M) is used to test embryos for specific single gene disorders, such as cystic fibrosis or sickle cell anemia, when there is a known high risk for an individual or couple to have an affected child.


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