Reproductive Medicine, Infertility and Preconception

There are a wide range of genetic and non-genetic factors which can contribute to infertility.  In some cases, the underlying cause is due to an atypical chromosomal analysis or another genetic test result such as a Y chromosome microdeletion.  Our physicians at the Reproductive Medicine Center refer patients to meet with a genetic counselor in these cases to aid in explanation of the results, if/how they may impact their medical management, and, importantly, if/how the results impact their reproductive risks and testing options.  Commonly, however, a genetic cause may not be identified through testing, even if a genetic cause is highly suspected.  

We offer all of our patients the option of carrier screening.  Carrier screening consists of genetic testing on one or both reproductive partners to assess potential risks of having a child with a genetic condition.  Most of the conditions screened on the testing panel have an autosomal recessive inheritance pattern, indicating that carrier patients are healthy and unaffected.   

However, if we identify that both the egg and sperm contributors are carriers of the same condition (a match), then they are at a high likelihood (1:4 or 25%) for having affected offspring.  Identifying this chance prior to conception allows parents to better understand the condition and their testing options.  Some patients elect to increase the odds of having a healthy, unaffected, baby through testing of embryos.  The carrier screening panel offered to patients has been expanding rapidly and may include several hundred genes (conditions).   

Some patients may be using sperm or egg donors to build their family.  We understand that reading and interpreting donor genetic testing information can be overwhelming and complex.  Our genetic counselors provide review and risk assessment for up to two gamete donor reports to aid in decision making prior to patients making their purchase.  

A genetic counselor reviews personal and family history to identify and discuss potential inherited factors.  They have specialized training to be able assess and explain genetic risks, patient testing options, in addition to interpreting and describing genetic testing results in an understandable manner.   

A genetic counselor will not require a patient to have any testing.  Rather, a genetic counselor will provide them with complete information about testing options so patients can make decisions that are right for them.