Dr. Erin Wolff peers into a microscope in her lab at the National Institutes of Health (NIH). Through the magnifying lens, she examines an egg from the ovary of one of her patients, a young woman with a rare autoimmune disease called GATA2 deficiency.
The patient is about to undergo chemotherapy and a bone marrow transplant, the only known treatment for her disease and one that will likely damage her ovaries, rendering her infertile.
Dr. Wolff has extracted some of her eggs so that one day, through in vitro fertilization, the patient may have the chance to become a mother.
"That is why I went into this line of medicine," notes Dr. Wolff, head of the Unit on Reproductive and Regenerative Medicine at the NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development. "To do exactly this."
Looking for Clues
Dr. Wolff is one of many researchers working to find solutions for couples facing infertility.
Millions of men and women in the United States experience infertility. In fact, nearly 15 percent of U.S. couples do not become pregnant in their first year of trying. The causes vary: underlying health conditions, age, genetics, and certain environmental and lifestyle factors can all play a role. And for many couples, the cause remains frustratingly unknown.
The good news is that couples struggling with infertility now have more options than ever before. While we have much left to do, research is steadily leading to a greater understanding of infertility's causes and risk factors, better technologies, and more personalized treatments.
Reducing the Risks
Researchers are working hard to identify factors that enhance fertility and those that decrease it, so that we can prevent infertility. Scientists are studying the underlying medical conditions that we know are associated with infertility -- including endometriosis, polycystic ovary syndrome, primary ovary insufficiency, and fibroids in women, and conditions that affect the formation and transport of sperm in men.
To address unexplained infertility, we're also studying the impact of environmental and lifestyle factors. For example, we've learned that male exposure to high levels of certain ultraviolet filters and phthalates (chemicals used in numerous consumer products) may lead to pregnancy delays. Working in a physically-demanding job, having high blood pressure, and taking multiple medications are other health risks that may undermine a man's fertility. And, for both men and women, high cholesterol is linked to lower fertility.
In vitro fertilization (IVF), probably the most well-known infertility treatment, has seen tremendous progress since the birth of the first "test tube baby" in England in 1978. IVF has helped many couples become parents -- producing more than 5 million babies worldwide -- but the procedure is not without risks and success rates vary.
Researchers are working to improve IVF on several fronts, trying to reduce the side effects and increase positive pregnancy outcomes. They are experimenting with transferring embryos in natural menstrual cycles vs. medically stimulated ones, so women won't have to take so many hormones throughout the process. Researchers also are fine-tuning techniques to screen embryos for various diseases prior to implantation, to reduce the odds that parents will pass on specific disorders.
Still, IVF and other assisted reproductive technologies don't work for everyone. And, they can be costly and aren't always covered by insurance. We need to find effective treatments to help more people.
Pursuing Personalized Treatments
Personalized treatment, the ability to tailor a therapy to a person's specific genes, environment, and lifestyle, is an important goal in treating infertility, as it is in other areas of medicine.
Case in point: In a study published last year, researchers found that women with polycystic ovary syndrome had dramatically better chances of pregnancy with the drug letrozole than the standard treatment, clomiphene. Scientists conducted a follow-up study to test letrozole in a broader population of women, hoping for similar success. But instead, they found that, for women with unexplained infertility, letrozole performed no better than clomiphene; in fact, it was slightly less effective.
So much of what we know about infertility is from research on a population level, but individuals are individuals, not populations. Clearly, the right treatment for any couple depends on the cause of the infertility. We're still trying to determine what treatments are best for whom.
The most important messages I can leave you with are these:
- Being able to have children is often taken for granted, but millions of people experience infertility. Infertility has many causes, but there are a growing variety of treatment options.
- Infertility should be taken seriously; it can be a sign of other underlying health issues.
- Early detection may allow for more treatment options. While irregular menstrual cycles at puberty are normal, later lack of menstrual periods or periods that occur three or more months apart could point to fertility problems in adulthood.
Above all, for those struggling with infertility, I know the path to parenthood may seem insurmountable. While the discoveries take time, the research community is working diligently, inspired by the determination of so many couples and the courage of so many patients.
American Society for Reproductive Medicine: ReproductiveFacts.org
Centers for Disease Control and Prevention: Infertility FAQs and the National Public Health Action Plan for the Detection, Prevention, and Management of Infertility
Eunice Kennedy Shriver National Institute of Child Health and Human Development: Infertility and Fertility: An Overview
U.S. Department of Health and Human Services, Office of Population Affairs