Genetic Predisposition and IVF

Reviewed by: Mackenzie N Naert, MD

How can IVF help with genetic predispostions?

  • IVF allows for preimplantation genetic testing (PGT), meaning embryos can be tested to assess for inherited familial diseases or genetic abnormalities before embryo transfer. [1] Examples of genetic predispositions:

    • Monogenetic Disorder - specific genetic pathogenic variant (mutation) associated with a known diagnosis or known predisposition within a family

    • Aneuploidy - extra or missing chromosomes

    • Structural Rearrangements - embryos that are at risk for chromosome gains and losses related to parental structural chromosomal abnormalities (eg translocations, inversions, deletions, and insertions)

What are the different types of PGTs?

  • Preimplantation genetic testing for monogenic (individual) disease (PGT-M)

  • Preimplantation genetic screening for abnormal chromosome number (PGT-A)

  • Preimplantation genetic testing structural rearrangement (PGT-SR)

Who are candidates for these PGTs?

Candidates for PGT-M

Individuals who are at risk for monogenic diseases (due to a specific gene mutation). These are usually known based on family history or found on carrier screening blood tests. These could include (but are not limited to) the following conditions:

  • Huntington’s disease

  • Sickle cell anemia

  • Muscular dystrophy

  • Cystic fibrosis

  • BRCA1 & BRCA2 mutations

  • Fragile-X syndrome

  • Tay-Sachs disease

Candidates for PGT-A

  • Couples who have had a previous pregnancy with aneuploidy

  • Women who have had two or more miscarriages

  • Women who have experienced previously failed embryo implantation

  • Women diagnosed with unexplained infertility

  • Women older than age 35

  • Women who have undergone numerous unsuccessful fertility treatments

Candidates for PGT-SR

  • Individuals with a known chromosome rearrangement, and thus are at risk of creating embryos with the incorrect chromosome number or structure (2)

  • PGT-SR examines the following disorders:

    • Robertsonian translocations:

    • Reciprocal translocations

    • Inversions

PGT Detailed Overview

Last Reviewed: September 21, 2023