As teenagers, many of us were lectured on the virtues of using birth control to prevent unplanned pregnancy. And for good reason. However, it is often assumed that once we are ready to have children, it will be as simple as stopping that same birth control. For some though, it isn’t quite that easy. With 1 in 8 couples having trouble achieving or sustaining a pregnancy, chances are you probably know someone dealing with infertility. Couples who struggle with infertility may feel that after months or even years of trying to get pregnant without success that their dream of having children may remain just that, a dream.
Luckily, there is reason to hope—over half of couples who seek treatment for infertility will go on to have healthy babies. As a part of that treatment, and when planning a pregnancy in general, it is recommended that all couples are offered genetic testing called carrier screening. Carrier screening can help determine the chance that certain inherited genetic conditions could be passed down to children. You may think, “why have genetic testing when I don’t have any family history of genetic disease?” Well, because some genetic conditions are tricky. With these types of conditions, there is usually no sign of the disease in the prospective parent or his or her family members even when the risk to children is high.
Carrier screening can be especially helpful for those undergoing fertility treatments and considering the use of assisted reproductive technologies to achieve a pregnancy. Not because the risk is necessarily higher for these people though. With a few notable exceptions, those with fertility challenges are not any more likely to be a carrier of one of these genetic diseases than any other person. The benefit comes in the additional options that are available in the preconception period versus when a woman is already pregnant.
Information obtained from carrier screening may significantly alter one’s family plan. Adopting children or not having children at all are of course possibilities that some consider. Couples at increased risk have more opportunities in addition to those. Some couples will choose to use an egg or sperm donor who has been carefully screened to ensure that he or she is unlikely to be a carrier for the disease in question. Others who desire a biological child may decide to pursue preimplantation genetic diagnosis, also called PGD.
PGD is the process of testing an embryo for a genetic condition to determine whether or not it is affected. Before PGD can be performed, embryos have to be created outside of the body through in vitro fertilization, “IVF” for short. One or two cells from each of these embryos is removed and tested for the parents’ genetic changes. These results can then help to narrow down the pool of embryos to ones that are most suitable for transfer. The chosen embryo or embryos are then transferred to the woman in attempt to achieve a pregnancy unaffected with the genetic condition.
Genetic counselors are uniquely poised to help at each step of the genetic testing process—from talking through the pros and cons of carrier screening before even making a decision about whether or not to test to explaining the results once they are back from the laboratory. While this process can be a smooth and even “easy” one, other times the path is rockier with unexpected bumps along the way. In these cases, it becomes invaluable to have a supportive provider like a genetic counselor with specialized expertise to guide the way. At Insight, our goal is to help prospective parents achieve their dream of not just having a baby, but of having a healthy baby.