Infertility Genetic Counseling

For the 10-20% of couples who experience infertility, it is estimated that more than half of these cases are due to an underlying genetic cause. Because infertility is complex and our knowledge of genetic changes that impact fertility is still ongoing, however, there are many cases where a specific known genetic change cannot be identified. 

There are several different types of genetic changes that can impact fertility. One of the main types is changes to the structure or number of chromosomes. There are also specific genetic syndromes that can cause infertility at the DNA level. Sometimes, a family history of other conditions such as endometriosis or PCOS can also indicate an increased risk for a hereditary cause. 

Genetic counseling and testing can be useful to either 1) identify a genetic explanation for infertility or 2) rule out possible genetic contributions. 

If a genetic change is identified that impacts fertility, the information can help a couple understand why they are experiencing infertility as well as guide them in options and next steps. If genetic testing does not identify a cause affecting fertility, this information can be useful in narrowing down other possible causes and guiding testing and treatment decisions. 

For a couple experiencing infertility, a genetic consult is an important step in investigating possible genetic causes and receiving optimal care. We will evaluate your personal and family history, address your concerns regarding fertility, discuss the potential benefits and limitations of genetic testing, and provide compassionate counseling and resources.