Help from Genetic Counselors
If you’ve identified that you and your partners are both carriers of a certain genetic condition, your genetic counselor will walk you through the options available for you if you wish to proceed with your pregnancy. Some couples choose to become pregnant despite both parents having been identified as carriers, in which case prenatal testing, such as chorionic villus sampling (CVS) or amniocentesis might be considered to determine whether the baby has the disorder in question.[1.BabyCenter Medical Advisory Board. (2014 September). Carrier screening for inherited genetic disorders. Retrieved October 30, 2015, from http://www.babycenter.com/0_carrier-screening-for-inherited-genetic-disorders_1453030.bc]
There are additional options you may want to consider if both parents have been identified as carriers. For instance, you may want to look into in vitro fertilization using either donor eggs or sperm to achieve pregnancy. In that case, a preimplantation diagnosis can be used to determine whether the baby will have the disorder. You can also opt for in vitro fertilization without using a donor egg or sperm and receive a preimplantation diagnosis to determine whether or not to proceed with implantation.[2.The American College of Obstetricians and Gynecologists. See above.]
Ultimately, there is no “right” course of action to take and the choice should be between you and your partner. It is helpful, however, for a counselor to assist you in examining all of your choices so that you can make the best-informed decision that’s right for you.
A genetic counselor may offer non-invasive prenatal testing (NIPT), which can screen for chromosome conditions, and in some instances, determine gender. The process is being continuously evolved to include more and more conditions, so be sure to ask your counselor about which disorders he or she can test for.[3.National Society of Genetic Counselors (2015). A Patient’s Guide to Understanding Non-Invasive Prenatal Testing. Retrieved October 30, 2015, from http://nsgc.org/p/cm/ld/fid=385]
While genetic counseling is helpful for couples who need it, the downside of these services is that they’re oftentimes very pricey and are typically not covered by health insurance. Genetic counseling can cost anywhere from hundreds to thousands of dollars.[4.Revelant, J. See above.]
If you’re considering genetic counseling, speak with your insurance provider ahead of time to find out if any of the costs would be covered. [avafootnote]