Infertility investigation and diagnosis

Fertility testing and investigation can be a lengthy and frustrating process, but it helps to know what to expect. In this article we cover some of the most common tests and examinations used for infertility diagnosis.

It is very common for couples to worry most about the female partner’s fertility – she’s the one who gets pregnant, right? However, only roughly a third of infertility cases are due to the woman alone. Another third of cases are due to the male partner only, while in the remaining cases, infertility is due to a combination of male and female causes, or no cause can be found.

The procedures for investigating male infertility are simpler, less expensive and less invasive than most of the tests required for women. Therefore, don’t postpone his checkup: Get the “male factor” question answered as early on as possible.

How to prepare for the first consultation

Get pregnant naturally: Infertility investigationThe first appointment is usually a review of your medical history and lifestyle, in order to identify any obvious issues. Ideally, the couple should come to this appointment together.

Many doctors and clinics will ask you to fill out a questionnaire before the appointment. If not, here are some of the topics you are likely to cover, and how you can prepare to discuss them:

  • Both partners’ general medical history. Bring your records of any previous conditions or treatments that may impact your fertility, in particular sexually transmitted diseases (STDs), cancer or autoimmune diseases. Bring copies of any relevant tests or procedures that you have already had, and let the health practitioner know if you are taking any medication, including non-prescription drugs and herbal medicines.
  • Both partners’ fertility history. Do you already have children, together or from previous relationships, and how long did it take to conceive them? Has either partner tried and failed to conceive in a previous relationship? Have you had any previous pregnancy complications, miscarriages or abortions?
  • Her gynecologic history. At what age did you get your period? Which contraceptives have you been using, and for how long? Are your cycles regular, and how long are they? If you are charting your basal body temperature, bring your charts from the last six months.
  • Any relevant issues from his medical history. Make sure to mention any previous genital or prostate infections, trauma or surgery near the reproductive organs, or regular exposure to environmental hazards such as chemicals or pesticides.
  • Sexual life. Be prepared to discuss your frequency and timing of intercourse, as well as any difficulties you experience such as pain during intercourse, erection problems or ejaculation problems.
  • Lifestyle. Be honest when discussing lifestyle factors that may affect your fertility, including diet, excercise habits, tobacco, alcohol, recreational drugs, and stress. The health practitioner is there to help you, not to judge, and having the full picture will help him or her make the best decisions for the next steps of the investigation.

A thorough physical examination, including a gynaelogical examination for her and an evaluation of the pelvic organs (penis and testicles) for him, may also be performed during the initial consultation.

Male fertility testing

Semen analysis

The vast majority of male infertility cases are due to a sperm disorder. A semen analysis should therefore be one of the first steps in the investigation. The semen analysis consists of a series of laboratory tests to assess the quantity and quality of the sperm cells and the seminal fluid.

For this test, the man needs to provide a semen sample. It is produced by masturbating and ejaculating into a clean cup or sample container, preferably after 2-5 days of sexual abstinence (no ejaculation). Because the sample must be kept at body temperature and analyzed within a couple of hours, this is typically done in a private room or a bathroom at the doctor’s office or clinic – unfortunately not the most erotic of environments!

The semen analysis will provide information about the volume and concentration of sperm cells, their shape (morphology), and the percentage of moving sperm (motility), among other factors.

Hormonal assessment

Infertility investigation: Hormonal testsIf the semen analysis shows abnormal results, or if there are other indications of hormonal disorders (such as small testicles or the presence of breasts), the health practitioner may prescribe blood tests to measure hormonal levels.

The first are usually testosterone (T) and follicle-stimulating hormone (FSH). If these initial tests detect any anomalies, luteninizing hormone (LH) and prolactin tests may also be prescribed.

Infections

Blood tests may also be performed to determine if you have any infections that might affect fertility, such as HIV, hepatitis, and chlamydia.

Testicular biopsy

For most couples, this test will not be required. But if the sperm analysis shows very few or no sperm cells, while the hormonal tests are normal, a testicular biopsy may be performed. The purpose is to determine whether the sperm production problems are caused by a blockage. Using local anesthetic, a small sample of testicle tissue is removed for examination under a microscope.


Genetic testing

If you produce very little or no sperm, but none of the previous tests have identified the cause, your doctor may prescribe a genetic test. It is a simple blood test, analyzed in a specialized laboratory. The test results can help your doctor assess how likely it is that you will find sperm in the testicles that can be used for in-vitro fertilization, and to advise whether any genetic abnormalities are likely to be passed along to future children.

Female fertility testing

Hormonal assessment

The first female fertility test is usually a hormonal assessment. You doctor may prescribe one or more of the following blood tests:

  • Progesterone. If you have regular cycles, the level of progesterone in your blood can be measured approximately one week after ovulation (or one week before your expected period). It is a cost effective method for confirming that you have ovulated.
  • Follicle Stimulating Hormone (FSH) and Luteinizing Hormone (LH). This test is taken between day 2 and day 5 of the menstrual cycle, and provides useful information about the functioning of the ovaries. A high concentration of FSH may indicate failing ovaries. Heightened levels of LH may indicate PCOS.
  • Estradiol levels, which help interpret FSH levels. An elevated estradiol level in combination with a normal or elevated FSH may indicate that you are likely to respond poorly to infertility treatment.
  • Anti Mullerian Hormone (AMH). This test provides a good estimate of the number of eggs you have left in your ovaries, and whether your ovarian reserve – your “egg supply” – seems normal for your age.
  • Inhibin-B is another indicator of your ovarian reserve. It also helps assess how likely you are to respond well to ovarian stimulation in assisted reproduction.
  • Thyroid-stimulating hormone (TSH) and prolactin levels can help detect thyroid disorders and hyperprolactinemia, which may be the cause of fertility problems.

Infections

Certain infections, especially chlamydia (a sexually transmitted disease), can affect female fertility. To test for these, a few cells will be collected from your cervix with a cotton swab. Chlamydia can be treated with antibiotics.

Ultrasound scan

Infertility investigation: Ultrasound scanFollowing the hormonal tests, the next step in female infertility investigation is usually an ultrasound scan. A small ultrasound probe is inserted in the vagina, allowing the health practitioner to see the uterus and ovaries on a screen.

It is used to check for abnormalities such as fibroids, polyps and ovarian cysts, to assess the thickness of the uterine lining (endometrium), and to count the number of follicles (egg sacs) at the beginning of the menstrual cycle and monitor their development.

Post-coital test

The usefulness of the post-coital test (or Huhner test) is debated, but some practitioners still prescribe it.

Scheduled close to ovulation, it is used to assess the interaction between the woman’s cervical mucus and her partner’s sperm. The couple must have sexual intercourse, preferably in the morning, and the test is taken a few hours later. A sample of mucus is collected from the cervix and examined under a microscope.

Normal, motile sperm should be observed in the sample. If the sample contains a lot of inactive sperm or sperm with abnormal motion, it could indicate an antibody reaction – i.e., the woman’s immune system incorrectly interprets the sperm cells as a threat, similar to bacteria or viruses, and tries to destroy them.

Hysterosalpingogram (HSG)

This is an X-ray procedure of the uterus and fallopian tubes, used to check if the shape of the uterine cavity is normal and the fallopian tubes are open so that the egg and sperm cells can travel through them.

A catheter is inserted through the vagina and into the opening of the cervix. A dye (a liquid containing iodine) is injected through the catheter into the uterus and fallopian tubes, enabling the radiologist to see if there is a blockage or other anomaly. If the liquid fails to spill out of the ends of the fallopian tubes, this can indicate that they are blocked or that a spasm has occurred, requiring further investigation.

In some cases, the HSG procedure itself seems to “clear up” the fallopian tubes, and many women have reported becoming pregnant shortly after having this examination.

Hysteroscopy

Hysteroscopy, an examination of the inside of the uterus, is usually only prescribed if the results from the ultrasound scan and/or HSG indicate a possible anomaly. The examination is performed during the first part of the cycle, after menstrual bleeding has ceased. Local anaesthetic is usually sufficient. The hysteroscope, a narrow tube with a light source and a camera at the end, is inserted into the uterus and the surgeon examines the uterine lining with the help of the camera.

If abnormal tissue growth is found, other surgical instruments may be inserted to cut or burn it away. A sample of tissue may also be removed for further testing (biopsy).

Laparoscopy

Laparascopy is a surgical procedure used to investigate the fallopian tubes, uterus and ovaries and to perform small-scale surgery. Due to the cost and the invasive nature of the procedure, it is usually one of the last tests in the infertility investigation.

The procedure is performed under general anaesthetic, usually as a day-case (the patient does not need to stay in the hospital overnight). A fibre-optic instrument, the laparoscope, is inserted through a small incision in the belly button, enabling the surgeon to view the abdominal and pelvic organs directly and search for anomalies such as scar tissue, endometriosis and fibroid tumors. If any such defects are found, they can sometimes be corrected immediately.