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How infertility is diagnosed

Receiving a diagnosis of infertility can be daunting when you’re trying to conceive. You might think — were there signs of infertility that I missed? Is there anything I can do to improve my chances of conceiving, or treatment for my infertility? Will I ever be able to have biological children? 

It’s natural to have these questions and more running through your mind when you are diagnosed with infertility, or even if you suspect fertility issues. In this article, we’ll answer these questions and get to the bottom of everything you need to know about infertility diagnosis.

Key takeaways:

  • If you’re in a heterosexual couple, you may receive an infertility diagnosis if you’re unable to become pregnant after 6–12 months of regular, unprotected sex.
  • Infertility is not a gender-specific condition. Anyone can be diagnosed with infertility, and male-factor infertility accounts for about half of cases.
  • It’s possible to have biological children even if you’re diagnosed with infertility. Pinpointing and addressing the potential causes of your infertility is pivotal.

What is infertility?

Infertility is defined as an inability to become or remain pregnant after 12 months of regular unprotected sex (or six months if the female partner is over the age of 35).

Infertility is a “functional diagnosis.” That means it’s not diagnosed by a specific test or metric but, instead, by clinical outcomes. In this case, the outcome that determines a diagnosis is not attaining a pregnancy or experiencing recurrent pregnancy loss.

“Social” infertility

If you aren’t in a cis, hetero couple — and therefore natural conception isn’t available to you — you might be wondering, where does this definition of infertility leave me?

In recent years, experts in the fertility field have attempted to redefine and broaden the definition of infertility to reflect demographic factors that can influence a person’s ability to have children without medical assistance.

Some in the LGBTQ+ community have described their path to parenthood as “social” infertility. Both partners in a same-sex relationship may technically be fertile, but they experience non-medical barriers to pregnancy. Although there are reproductive assistance technologies available for LGBTQ people, the procedures can be expensive — and much of the time, health insurance will not cover these procedures.

There are also people who want to have children but are single. Depending on the sex of the hopeful parent, they may need to purchase donor sperm, find an egg donor, or find a gestational surrogate to carry the pregnancy. Pursuing procedures like insemination, IVF, or surrogacy can be a great financial strain for just one person to bear.

With this in mind, health advocates in the fertility space have pushed for a wider definition of infertility, with hope that this will allow access to healthcare and coverage to expand.

Types of infertility

There are several types of infertility, each with different potential causes and different approaches to treatment. In many cases, people with infertility do not experience other symptoms or any warning signs — they only realize there may be an issue once they have trouble trying to conceive.

Male-factor infertility

Although many people see infertility as a “women’s issue,” anyone can be diagnosed with this condition, and male-factor infertility is very common. Of all infertility cases, approximately 40–50% of couples struggle with male-factor infertility, meaning that the fertility of the male partner (and their sperm) is one of the primary drivers of the couple’s difficulty conceiving.

Male-factor infertility could be caused by:

There are a number of factors that can lead to decreased sperm quality, including lifestyle factors such as smoking tobacco or exposure to toxic chemicals. There are also some medical conditions that can affect male fertility, such as a varicocele or an untreated sexually transmitted infection.

Female-factor infertility

Approximately 10% of women in the United States between the ages of 15 and 44 experience infertility. Female-factor infertility is defined as a case in which the female partner and their eggs are at the center of the diagnosis. Female-factor infertility can be caused by any condition or factor that disrupts these three core processes in reproduction:

  • ovulation, in which an egg matures and is released from the ovary
  • fertilization, in which a sperm reaches the egg and combines with it
  • implantation, in which the fertilized egg burrows into the uterine lining and continues to develop.

Ovulation dysfunction can be caused by advanced maternal age (as egg quality and quantity both decline with age), or by hormonal imbalances such as polycystic ovarian syndrome (PCOS). Conditions like pelvic inflammatory disease (PID) or untreated sexually transmitted infections can cause fallopian tube scarring, making fertilization difficult.

Multiple-factor infertility

Sometimes, it’s a combination of male- and female-factor infertility issues that are causing a couple’s inability to conceive. For example, if the female partner has mild scarring in her fallopian tubes and the male partner has low sperm count, it’s much less likely that the sperm will reach the egg, compared to a couple that’s experiencing only one of these factors. This accounts for about a third of infertility cases.

Idiopathic (unexplained) infertility

In most cases, couples struggling with infertility are able to get to the root cause after diagnostic lab tests and examinations. However, around 15% of infertility causes have an unknown or unexplained cause. Lab tests and imaging may find that everything seems normal, and yet the couple still is not able to conceive.

Even if the cause is unknown, there are still infertility treatment methods available. Couples may choose to pursue intrauterine insemination (IUI), in vitro fertilization (IVF), or intracytoplasmic sperm injection (ICSI). Making healthy lifestyle choices can also help increase the chances of conceiving, with or without assisted reproductive technologies.

When to see an infertility specialist

There’s a misguided notion that getting pregnant is easy, and you may feel panicked if you don’t see a positive pregnancy test after a few months. However, it’s completely normal to try for several months before becoming pregnant.

Generally, infertility specialists will work with couples who have not been able to conceive after 12 months of consistently trying. If a partner is older than 35, then it may be beneficial to see an infertility specialist after six months of trying.

If you have a medical condition that is known to affect fertility, such as PCOS or cystic fibrosis, you may want to see an infertility specialist sooner than the recommended 6–12 month range. Similarly, if you’ve had an abnormal test result — such as a semen analysis — you might want to meet with a specialist earlier in the process of trying to conceive.

If you are not in a cis, heterosexual relationship, you may need to meet with a physician as you begin to consider starting a family to explore your options. Same-sex couples may consider surrogacy or use a sperm or egg donor for a procedure like IUI or IVF.

For single people, choosing and using donor sperm or donor eggs with a surrogate are options for having a biological child.

What kind of infertility specialist should I see?

Many couples start by seeing the female partner’s gynecologist. A couple may also seek care from a reproductive endocrinologist, a gynecologist specialist with additional training in fertility. However, couples dealing with male-factor infertility should also consider seeing an andrologist-urologist or male fertility specialist, who can provide more guidance on improving sperm health.

Common tests for diagnosing infertility

Male fertility testing

There are several types of male fertility testing options available, some of which you can complete from the comfort of your home. Below are the top three most common and recommended tests for people with testes.

  • Semen analysis: This is often one of the first tests recommended for assessing male fertility, and you can learn a lot from the findings. A semen analysis will typically give you data on the key factors of sperm health: semen volume, sperm count and concentration, sperm motility (how well sperm are swimming), and sperm morphology (how many of your sperm are the proper shape). If any of these metrics are abnormal, this information can help your physician guide you toward changes and treatments that may help.
  • Sperm DNA fragmentation: This test examines sperm’s genetic health. Sperm DNA fragmentation refers to damage in the DNA contained within sperm. People with high rates of sperm DNA fragmentation are at an increased risk for infertility and miscarriages.
  • Hormone testing: Hormones play a big role in fertility. Key male fertility hormones like testosterone, follicle-stimulating hormone (FSH), and luteinizing hormone (LH) drive sexual function and the overall reproductive system. When one or a few are off-balance, this could have a significant impact on your fertility.

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Although the thought of infertility can be scary, there’s power in knowledge. The more you know about your body, the better equipped you are to overcome any roadblocks. If you’re struggling to conceive or simply planning to start a family soon, getting a clear picture of your sperm health is a great first step. 

Female fertility testing

Some lab and clinical tests can also help identify potential causes for female-factor infertility, including:

  • Anti-mullerian (AMH) testing: This test measures the level of AMH in the blood. AMH is a hormone produced by the ovarian follicles, the “sacs” which hold eggs in the ovaries. AMH levels are a good indicator of a person’s ovarian reserve (the number of potential eggs remaining), and can be used to predict the start of menopause, diagnose PCOS, or help pinpoint a reason for lack of menstruation. AMH levels may also indicate a person’s ability to produce eggs during IVF.
  • Other hormone testing: AMH is an important hormone, but it is not the only hormone that plays a role in fertility. Other hormones like FSH, LH, progesterone, and estrogen all impact the female reproductive system. If the body overproduces or underproduces a particular hormone, it can greatly impact fertility.
  • Ultrasound: Ultrasound imaging is a helpful test in understanding infertility. In some cases, there can be a structural issue that is causing infertility, such as scarring on the fallopian tubes, ovaries, or uterus. Inflamed tissue and damage to these vital reproductive organs can create difficulty in trying to conceive or even pregnancy complications. Ultrasound can also help specialists visualize the ovarian follicles, which can give additional clues as to a patient’s ovarian reserve.

Can I still have children if I’m diagnosed with infertility?

A diagnosis of infertility does not mean that having a biological child will be impossible. You may need to make some changes to your lifestyle or your conception attempts, or pursue fertility treatment.

For example, in cases of female-factor infertility, a person might be experiencing ovulation dysfunction, which can be helped with medication. Or if someone is experiencing male-factor infertility, they may receive recommendations to improve sperm health and boost their chances of conceiving. Each case of infertility is unique, so getting to the root cause is an important step in developing a plan of action.

Treatments for infertility

Intrauterine insemination (IUI)

During IUI, thawed and prepared sperm is inserted directly into the uterus, bypassing the vagina and cervix. The procedure happens at the time of ovulation, often timed using ovulation medication. IUI may be helpful for those with anovulation (lack of ovulation) or with mild male-factor infertility. It’s also often the first step for those with unexplained infertility.

In vitro fertilization (IVF)

IVF is a process in which a patient’s ovaries are stimulated to produce multiple eggs in one cycle. Those eggs are retrieved from the patient’s ovaries surgically, and then combined with partner or donor sperm in the lab to produce embryos. One or more embryos will then be transferred into the patient’s uterus to attempt pregnancy.

IVF is useful for those with moderate male-factor infertility, diminished ovarian function, advanced maternal age, or unexplained infertility that has not been resolved with IUI.

IVF with intracytoplasmic sperm injection (ICSI)

ICSI is an IVF technique in which a single sperm is injected directly into an egg in the lab. It’s most useful in cases of severe male-factor infertility, when sperm motility is low. ICSI may also be helpful when you’re working with frozen sperm and quantities are limited.

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