You have finally made the decision. You are going to pursue in vitro fertilization (IVF) to build your family. This may be the biggest decision you have made to date (believe me, I know. IVF veteran here!). Just when you think you have it all figured out: medication protocol, giving yourself an injection (or multiple injections), balancing your work schedule with all of the doctor’s appointments, someone (maybe your doctor, maybe a friend, maybe a fellow IVF warrior), asks you what genetic testing you are doing as part of your cycle. Um, what?  Today, genetic testing is in all parts of medicine, and the fertility space is no exception.

While not every person wants or needs all available testing, here is a little information about the most common genetic tests you may encounter during your IVF journey.

Karyotype

A karyotype test is also referred to as a chromosome analysis; this is best completed before beginning an IVF cycle, if possible. Chromosomes are the structures that carry all of our genetic material. Most individuals have 46 chromosomes in each cell of their body. Chromosomes are inherited in pairs; one copy of each pair comes from the egg and one copy of each pair comes from the sperm. The first 22 pairs of chromosomes (the autosomes) are the same in males and females. The 23rd pair of chromosomes are the sex chromosomes. Individuals with two X chromosomes are chromosomally female. Individuals with one X and Y chromosome are chromosomally male. Some individuals have rearrangements in their chromosomes that may increase their chance to conceive an embryo with a chromosome abnormality1. One of the most common rearrangements that may be identified is a balanced translocation1.

This most often occurs when a piece of two different chromosomes break off and switch places. (reciprocal translocation)1.

pgd-reciprocal-translocations

Figure 1

pgd-robertsonian-translocation