18/07/2025
Karyotype or Carrier Screening?
Karyotype, looks at your DNA 🧬. We all made up of 23 pairs of chromosomes; females will have a 46 XX karyotype whilst males will have a 46 XY karyotype. This test is commonly ordered when seeing a fertility specialist as on rare occasions, there can be small changes in how your DNA is arranged that do not necessarily impact your health, but might be impacting the chance of conception or increasing the rate of miscarriage.
Reproductive Carrier Screening on the other hand, is a test that looks at conditions that you ‘carry’ but do not necessarily have. There are two major types of inheritance that can lead to a healthy couple having a child with a serious genetic condition. These are referred to as autosomal recessive and X-linked recessive inheritance. Generally, we will all carry some sort of condition, this becomes relevant if you and your partner (or s***m donor) carry the same condition. If you both carry the gene then there is a 25% chance that a conceived child would have the affected condition. In assisted reproduction, if this is the case we do have the technology to be able to select embryos that are unaffected, this is referred to as PGD or pre-implantation genetic diagnosis.
You can elect to test for a small number of conditions or an extended list of conditions, test one or both of the intended genetic parents.
