What are Inversions?
An inversion is a type of chromosomal structural rearrangement where a chromosome segment breaks off, flips around (inverts), and reattaches in the reverse orientation.
- Pericentric inversion: The inverted segment includes the chromosome’s centromere.
- Paracentric inversion: The inverted segment does not include the centromere.
Key Features
- Often balanced (no genetic material gained or lost), so carriers are usually healthy.
- Can cause fertility problems due to the risk of producing gametes with missing or duplicated segments during reproduction.
- May be linked to recurrent miscarriages or infertility in some couples.
Common Health Implications
- Usually no health problems for the carrier
- Increased risk of miscarriage
- Risk of having children with chromosomal imbalances, which may lead to developmental delays or birth defects
How to Reduce the Risk
- Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR) during IVF to select embryos without chromosomal imbalances
- Genetic counseling to assess inheritance risk and reproductive options
- Prenatal testing (chorionic villus sampling or amniocentesis) for pregnancies at risk