How Infertility is Diagnosed

As a reproductive endocrinology and infertility specialist, I see women and couples every day who are struggling to have children. Many of them have been trying on their own for a year or more and have waited several months for this appointment, and they are eager to get things moving.

Infertility is common: it affects about 1 in 5 women (at least in heterosexual married couples, which the CDC reports on). But infertility is not something we hear discussed regularly, and rarely do we learn about it in health class. This can lead to feelings of shame, isolation, and sadness about not (yet) having the children you want.

It’s my job to figure out what’s causing the infertility and to come up with the best treatment plan for that particular patient or couple. All of this starts with a diagnosis, so let’s dive into some of the key topics around diagnosing infertility:

What is infertility?
When should you seek help?
How is it diagnosed?
What other testing might be done?

This is a general overview for anyone trying to conceive or navigating infertility and fertility treatments so you can have more-informed conversations with your doctors.

Note: For LGBTQ+ couples using donor sperm or eggs, I recommend that you start here to consider whether fertility testing is right for you.

Take me to the bottom line

What is infertility?

Luckily, the American Society for Reproductive Medicine changed its guidelines for the definition of infertility in October 2023 to recognize the wide contexts in which people may seek fertility services to grow their family. This new definition includes “the inability to achieve a successful pregnancy based on a patient’s medical, sexual, and reproductive history, age, physical findings, diagnostic testing, or any combination of those factors.” It also includes the need for donor sperm or eggs.

This word-salad definitional approach is intentional! In our current health-care system, insurance coverage depends on having a medical diagnosis, and so this broader definition will hopefully mean expanding coverage. Still, many people do not have access to insurance policies that include fertility coverage, and so there is a lot more work to be done.

We typically define infertility as the inability to achieve a successful pregnancy. This could be due to anything along the path of ovulating an egg to the implantation of an embryo, but it could also result from factors that science hasn’t yet identified.

When should you seek help?

A first question to ask: when should you seek help for an infertility diagnosis?

If you are in a heterosexual relationship, you should seek help right away if you have any medical complications, such as a history of cancer treatment (chemotherapy and/or radiation) in either partner, irregular or absent periods, or a history of endometriosis in the female partner. It may also be worth checking in with a fertility specialist if the female partner has ever had appendicitis (especially ruptured appendicitis), gonorrhea, or chlamydia, because any of these can result in blocked fallopian tubes.

Otherwise, when you should seek help depends on the age of the female partner. For couples in which the female partner is under 35 years old, you should seek help if you have not conceived after 12 months of trying; in couples in which the female partner is 35 years and older, that time shortens to six months.

If you are in a couple in which the female partner is 40 years or older, then you should seek help right away, because the chances of getting pregnant on your own are relatively low: less than a 5% chance of pregnancy per cycle by age 40, compared with 20% for a healthy 30-year-old woman.

How is infertility diagnosed?

When trying to come up with a diagnosis, there are four areas we take as a jumping-off point:

high-quality eggs
high-quality sperm
at least one fallopian tube that is open on both ends, and
a uterus where a pregnancy can grow

These are the areas we focus on because they are things we can test and that we know are required for a healthy pregnancy.

It is important to keep in mind that not all couples will have fertility issues fall into one of these buckets. Upward of one-third of heterosexual couples are diagnosed with unexplained infertility. Unexplained doesn’t mean that there isn’t a reason. It’s just that science hasn’t progressed to the point of being able to explain “why” just yet. While this can feel like a frustrating diagnosis, there are still treatment options, and many people with unexplained infertility go on to have healthy pregnancies.

Let’s look at each of these areas in more detail.

Eggs (ovarian reserve tests)

The most complicated issue to test for is eggs. In a perfect world, we’d be able to evaluate egg quality, meaning the ability of the egg to lead to a healthy pregnancy. In practice, we do not have any way to do that.

What we can do — and should be done — is an evaluation of the female partner’s “ovarian reserve,” or a rough estimate of the quantity of eggs.

These tests won’t give a reason for the infertility but will help predict response to fertility treatments, namely those that use in vitro fertilization (IVF) medications. This is really important to understand, because these tests are often marketed as “fertility” tests, and many people get confused or concerned by the results. They aren’t tests of fertility, but they do correlate with IVF success rates.

The reason such tests won’t tell you why you’re having difficulty is that egg quality matters much more than quantity. This goes down with age, and fertility rates go down right alongside it. There is no test for egg quality.

There are three basic tests to assess ovarian reserve, and your doctor may choose one, all, or any combination of these: anti-Mullerian hormone (AMH), follicle-stimulating hormone (FSH) and an estradiol level, and an antral follicle count (AFC). AMH, FSH, and estradiol are all blood tests, and AFC is an ultrasound that is typically done transvaginally.

In addition to these tests, we want to determine if you are ovulating (i.e. the egg is being released). If you are having regular periods, that is enough to be confident that you are ovulating, and no further testing is needed. If you are using ovulation predictor kits (OPKs), some providers (like me!) like to confirm this by having you come in for blood tests after you get a positive OPK. If you are not regularly ovulating, that is a red flag and you should let your provider know. Not regularly ovulating makes it very difficult to be able to time sex and, depending on your circumstances, may be easily fixed with medications.

Sperm

The testing for sperm is relatively straightforward. Essentially, the tests are to make sure that there is enough sperm (count and concentration), they look normal (morphology), and they are generally moving in the right direction (motility and progressive motility). This means that the male partner will need to provide a semen sample that will be measured and looked at underneath the microscope (a semen analysis).

For heterosexual couples, there is a “male factor,” or an abnormality in the semen analysis and/or a problem producing semen, over 50% of the time. So this is a very important and sometimes overlooked component of the workup. You should still have a semen analysis done even if the male partner has previously had children with another partner because something could have changed in the time in between.

Fallopian tubes and uterus

As a reminder, to establish a pregnancy, an egg grows in the ovaries and is released into the fallopian tube. The egg is then fertilized by sperm, and the resulting embryo travels to the uterus to implant. These tests tell us whether that process is working.

Evaluation of the fallopian tubes and uterus are often combined. There are usually two different tests to evaluate both of these.

The first (and more common) is to have a vaginal ultrasound where a small catheter is used to put saline into the uterus to make sure that the uterus is free of any polyps or fibroids that are impacting the lining of the uterus (endometrium). We can also look to see if the fallopian tubes are open by injecting air. There are many different names for this test, but they all fall under the general category of saline sonohysterogram.

The other test is an x-ray called a hysterosalpingogram (HSG), in which a small catheter is used to inject dye into the uterus under x-ray. This test is typically more painful, so your provider will give you instructions for pain medications to take beforehand.

The saline sonohysterogram is considered a better test for evaluating the inside of the uterus, while the HSG is considered better for evaluating whether the fallopian tubes are open.

What other testing might be done?

You will likely receive other tests during an infertility workup.

Many fertility providers will include prenatal testing. This involves testing your blood type, a complete blood count (CBC), hemoglobin electrophoresis if you have not had this done before (to check for hereditary anemias), infectious disease testing (for HIV, hepatitis B, syphilis, gonorrhea, and chlamydia), and making sure that you are immune to conditions that can be particularly harmful during a pregnancy and in which the vaccine is not safe to receive during pregnancy (varicella and rubella).

It is also recommended that you have genetic carrier screening for conditions that can be passed on to a baby. Many of these are blood tests that are relatively easy to obtain because you will already be having blood drawn.

The bottom line

You should have an infertility workup before trying to conceive if you or your partner has had cancer treatment or if you have irregular or absent periods, a history of endometriosis, or a history of a pelvic infection.
For heterosexual couples, you should have a workup if you have not conceived after 12 months if the female partner is under 35 years old. If the female partner is 35 or older, you should have a workup if you have not conceived after six months. If the female partner is 40 or older, you should see a fertility specialist right away.
Ovarian reserve testing (AMH, FSH/estradiol, and/or AFC) can help you predict your response to IVF medications.
A semen analysis, and evaluation of the fallopian tubes and uterus by either a saline sonohysterogram or a hysterosalpingogram, should also be performed.
Your provider may also consider getting prenatal labs at the time of an infertility workup.

We recognize that readers of ParentData identify in different ways — read more about our approach to gender-inclusive language here.