Genetic Testing
Genetic testing is an important part of a fertility evaluation for all of our patients. This testing allows your care team to find out if you have a higher chance to have a child with a genetic condition before a pregnancy. It may also give us information about why a patient or couple is experiencing infertility in the first place. Below are some common types of genetic testing that may be ordered during an infertility workup.
Carrier Screening
All our patients are offered carrier screening. Most people do not know they are carriers of a genetic condition as they typically do not show any symptoms. Carrier screening can test a smaller number of conditions that are more common in a patient’s ethnic or ancestral group or can test for many hundreds of conditions more common in all populations of the world. About 80% of people tested on a larger panel are found to be carriers of at least one condition. For couples found to be at risk, genetic testing options before and during pregnancy reduce the chance of an affected child.
Chromosome Analysis/Karyotype
Looking at someone’s chromosomes can be helpful for couples with a history of multiple pregnancy losses, women with early ovarian aging or men with certain types of infertility. This testing is called a chromosome analysis or karyotype. It makes sure a patient has the right number of sex chromosomes (X and Y) and looks for any rearrangements of the chromosome material. Differences in the number of sex chromosomes may change your doctor’s recommendation for fertility treatment, while finding a chromosome rearrangement may cause your doctor to recommend IVF with preimplantation genetic testing (PGT) to lower the chance for a future pregnancy loss.
Additional Tests
Other types of genetic testing also exist for men with certain types of infertility and women with early ovarian aging. This testing will be reviewed by your care providers if needed. RMA is highly committed to using the newest and most in-depth genetic testing that can provide the clearest information to our patients.