Genetic Conditions and Fertility

The scene: Health class, Grade 8. Your biology teacher has just explained the mechanics of sexual intercourse, and now you’re about to find out the consequences if you do it. You can try to protect yourself, but contraception can fail. Have intercourse and surely sooner or later, you’re going to end up like this.

Boom, pregnant!!!

It makes sense to teach this model to 13-year-olds, who definitely should not be parenting any time soon. However, because most people have that kind of fear-based, boom-pregnant sex education, some adults are quite surprised to learn that it can take time for two healthy people to conceive a baby, and that there are actually many conditions that cause about 10-15% of couples to be unable to conceive without outside assistance.

Infertility is a super complex topic, hence there are 3-4 year post-residency medical fellowships to learn it, and I haven’t completed one of those, lol. But, I do have some personal experience with the topic, having gone through a couple of intrauterine inseminations, as well as a full fertility workup. For a surprising amount of couples, including us, their infertility stems from a vague mix of ovulation struggles and low sperm count/quality, or the cause is entirely unknown.

Some research has been done to discern genetically why these issues befall some couples. The gene NR5A1, for example, encodes for a receptor in a key adrenal pathway for both sexes, and mutations therein have been associated with disorders of sexual development, as well as male factor infertility in men who otherwise sexually developed normally (Ropke et all, 2013). Still, researchers recognize that infertility is deeply multi-factorial, and can stem from a mix of environment, nutrition, stress levels, genetics, and more.

In rare cases, however, a genetic condition can entirely explain a person’s lack of fertility. Disorders of sexual development, as well as other genetic conditions like Cystic Fibrosis, inhibit natural conception, due to chromosomal or structural abnormalities. These individuals typically have a genetic diagnosis before seeking fertility treatment, though not always. That’s why infertility GCs do exist! Through diagnostic imaging and genetic testing, patients may discover their genetic condition along the journey of fertility treatment. It’s crucial for these patients to know their genetic cause of infertility, to get the best treatment as they try to conceive.

Image result for knowledge is power

For a patient with a disorder of sex development, they may be female-presenting, but have testes instead of ovaries, or they may have more or fewer than typical sex chromosomes. These individuals cannot conceive without donor gametes, and, if the female uterus is not intact, a surrogate carrier. Though for many of these patients, this news may not be exactly new, it can be overwhelming to reach the time of wanting children, and for this information to sink in– that you will be unable to do so with your own sex cells and own body. In this situation, it would be extremely helpful to utilize a genetic counselor, who can help the couple choose their path and timing, and be a support throughout their decisions.

In the case of Cystic Fibrosis, male CF patients lack the vas deferens, so they are unable to ejaculate sperm. They can still conceive with their own gametes, but require sperm extraction straight from the testes, followed by IVF. From personal experience, I know that even the most basic fertility treatments can be expensive and emotionally draining, so I can imagine how stressful this more in-depth treatment would be. Again, it’s a great opportunity for involvement of a genetic counselor. The GC can be a point of contact for the couple and an emotional support. They may also introduce them to preimplantation genetic diagnosis and other genetic screenings, to better the chances of a healthy baby.

Right now, infertility and preimplantation genetic diagnosis genetic counselors are somewhat rare. Yet, there’s plentiful need for these compassionate and gene-savvy providers in the infertility field. Hopefully as more genetic counselors graduate and explore newer GC fields, more fertility clinics will have them at the ready to serve patients dealing with genetic-related infertility. As someone who has been through a bit of the infertility process, I can say with certainty, it’s not all about getting pregnant! Patients also benefit from learning and getting questions answered along the way, and GCs are perfectly suited to assist with that key need.

Somehow I knew this random selfie I took by the fertility clinic would come in handy some day.

-Laura Cooper-Hastings

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