What Tools Are Available To Diagnose Infertility?

Diagnosis

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There are a number of diagnostic tools available to help pinpoint the cause of infertility. After a couple has undergone Evaluation through a comprehensive physical exam and medical history, a fertility specialist will initiate a series of specific diagnostic investigations based upon his/her suspicion of the source of infertility for the couple. Causes of infertility can generally be classified within the following areas: the female endocrine system, the female pelvic cavity (tubal damage, endometriosis, uterine problems, fibroids), cervical interactions between partners, or the male reproductive tract. A glossary of medical terms is provided at the end of this page to clarify medical terminology that may be difficult to understand.

  1. Female endocrine system investigation
  2. Pelvic Factor Investigation in the female pelvic cavity to detect disorders such as tubal disease, endometriosis, uterine problems, fibroids, PCOS, ovulatory disorder, ovarian failure
  3. Cervical Factor Investigation to diagnose cervical interactions between partners, or the male reproductive tract.
  4. Male Factor Investigation to detect male infertility causes such as low sperm count, sperm motility or azoospermia
  1. Female Endocrine System Investigation

    If a fertility specialist suspects that the source of infertility may be related to ovulatory irregularity or other problems within the female endocrine system, the testing protocols outlined below will most likely be undertaken. Treatments for diagnoses within this category are expanded upon further in our Hormonal Therapy section.

    1. Basal Body Temperature Charting (BBT)
      This is the simplest and cheapest test for ovulatory evaluation. Elevated progesterone levels during the second half of the menstrual cycle cause the temperature of the body to rise 0.5-1.0 degree Fahrenheit. A BBT chart which demonstrates a 12 to 14 day elevation in temperature after day 11-16 is considered to be normal. Approximately 90% of women can be expected to have ovulated two days before or after the lowest temperature recorded before a sustained rise. If a BBT does not demonstrate a notable shift in temperature phases, it is called monophasic. There is a 20% chance of ovulation occurring despite a monophasic BBT. Likewise, a biphasic recording is generally a healthy indicator, but it does not always mean that normal ovulation has occurred. Luteinized unruptured follicle syndrome (LUFS) and retained ovum syndrome are theorized ovulatory abnormalities thought to occur despite normal hormonal events.
    2.  Endometrial Biopsy
      biopsyAn endometrial biopsy in the mid to late luteal phase (postovulatory day 7 to 12) can provide the confirmatory information to the BBT and serum progesterone testing, as well as diagnose endometritis or inflammation of the endometrium. It is the gold standard for diagnosing luteal phase defect, which, by definition, requires two biopsies more than two days out of phase. Multiple endometrial biopsies are not necessary to monitor response to ovulatory drugs. This test is performed much less frequently today then in the past.
    3. Urinary Luteinizing Hormone Detection
      Urinary Luteinizing Hormone (uLH) detection kits are very helpful for timing diagnostic procedures, inseminations and intercourse. Different tests have different abilities to predict the LH surge. The most sensitive use of the test requires a woman to empty her bladder in the morning, restrict fluids, and then test between 10 AM and 12 noon. The urinary LH surge usually occurs about one to two days prior to the rise in BBT and 12 to 60 hours before ovulation. A shorter range is 22 to 44 hours, with a mean of 30 hours.
    4. Ultrasonography
      Ultrasonography utilizes sound waves to image the internal status of the uterus, ovaries and ovarian follicles. It can be performed either transabdominally or, preferably, transvaginally, and is a very useful clinical tool in evaluating follicular development and ovulation. Different ultrasound probes and machines give somewhat different measurements, but in general follicles will mature and rupture between 17 to 22 mm in size. The loss of follicular size, the loss of clear follicles, and the appearance of fluid in the cul-de-sac are all suggestive of ovulation. The presence of multiple small follicles is indicative of polycystic ovarian disease. Additionally, endometrium in the midluteal phase greater than 8 mm in thickness is usually reflective of normally developed post ovulatory endometrium.
    5. Follicle Stimulating Hormone (FSH) and Estradiol (E2)
      The confirmation of absent abnormal ovulation, when suggested by screening tests, may require additional tests to rule out other endocrinologic diseases or conditions. The most important test is a cycle day 2-4 serum follicle stimulating hormone (FSH) level. Cycle day 1 is the first day the menstrual period begins. The normal upper range for this test is generally 10-13 mIU/mL. Levels below this range are normal, while levels approaching 20 mIU/mL are associated with markedly decreased pregnancy rates. Only an exceedingly small fraction of patients ever conceive if their serum FSH level is above 20 mIU/mL. Serum estradiol (E2) is almost always tested at the same time as the FSH level to prevent an inappropriate interpretation of the test results. Serum E2 on cycle day 2-4 should be less than 85 pg/mL. Several studies have demonstrated that even one elevated cycle day 2-4 FSH level is associated with a poorer prognosis, regardless of the results of additional tests.A more recent and more sensitive test to screen for ovarian reserve is the clomiphene citrate challenge test. This involves obtaining a serum FSH and E2 level on cycle day 2-4 as usual, followed by a 100 mg dose of clomiphene citrate which is given on cycle days 5-9. On cycle day 10 FSH level is obtained again. Results are considered abnormal if either FSH concentration exceeds 10 mIU/mL. Both ovarian function and clinical outcome with in vitro fertilization (IVF) can be predicted with statistically significant differences between normal and abnormal responders to the clomiphene citrate challenge test. It has also been shown that women with unexplained infertility have a higher probability of having an abnormal response.
    6. Laparoscopy
      laparascopeLaparoscopy may be performed for diagnostic purposes to identify ovarian follicles and surface irregularities suggesting normal ovulation. The finding of a follicular cyst on the ovary or corpus luteum is suggestive of ovulation. The presence of multiple small follicles is usually diagnostic for polycystic ovarian disease.
    7. Other Female Endocrinologic Tests
      Tests for thyroid disease include thyroid stimulating hormone (TSH) alone and, when abnormal, thyroxine (T4). Additional tests and treatment may be performed as indicated. Serum prolactin (PRL) should be obtained if ovulation dysfunction or galactorrhea (breast secretion) are identified. Serum LH may be helpful in diagnosing polycystic ovarian disease. If abnormal androgen levels are suspected, testing assays may include testosterone and dehydroepiandrosterone sulfate (DHAS) as screening tests, and free testosterone (free T4), androstenedione (A), and 17-hydroxyprogesterone (17 OHP) if indicated, and rarely cortisol and adrenocorticotrophic hormone (ACTH). Karyotype may be indicated for individuals with suspected chromosomal abnormalities.
  2. Pelvic Factor Investigation

    If your fertility physician suspects a physical or anatomic problem within the women’s pelvis, one or more of the following diagnostic tests are likely to be used:

    1. Hysterosalpingogram
      Hysterosalpingogram is a procedure in which a small amount of radio-opaque fluid is injected into the uterus and fallopian tubes and then visualized with x-rays to examine these structures. It has been the primary screening test of pelvic status because it is relatively safe, simple, inexpensive, and reliable. It is useful for diagnosing intrauterine structure and lesions and can evaluate tubal status in the proximal, distal, and sometimes intrapelvic region. Additionally, reasonable data suggest that the HSG may be associated with slightly increased pregnancy rates following its use. Disadvantages and potential complications include pain, discomfort, radiation exposure, infection, embolism of dye and hypersensitivity to iodine.
    2. Hysteroscopy
      hysteroscope1Hysteroscopy is an operative procedure that is performed as a diagnostic procedure or as a therapeutic intervention. The procedure can be done in the office or the operating room, depending upon the method of anesthesia applied and the extent of the procedure. Hysteroscopy has the advantage of being a very versatile procedure which avoids ionizing radiation and has a lower false-positive rate than HSG. It can also be used to perform selective hydrotubation of each fallopian tube, tubal catheterization to open blocked tubes, and rarely, falloposcopy to look inside fallopian tubes. These diagnostic tests may be very helpful in determining the functional status of the fallopian tubes. Disadvantages to hysteroscopy are the potential for producing artifactual polyps or adhesions during the performance of the procedure and the fact that it is an operative procedure with attendant potential surgical and anesthetic complications. This procedure can usually be done with a gentle intravenous anaesthesia known as conscious sedation.
    3. Ultrasonography and Sonohysterography
      Ultrasonography is a common tool utilized in the diagnosis of infertile patients. Ultrasonography is useful for the diagnosis of myomas, adenomyosis, adnexal or pelvic masses, intrauterine polyps, congenital abnormalities, and polycystic ovarian disease. Enlargement of blocked fallopian tubes (hydrosalpinges) can often also be diagnosed by ultrasonography. The recent widespread utilization of sonohysterography has further improved ultrasonography’s role in diagnosis of infertile conditions. Studies have shown that these tests are generally quite accurate. Since this technique is also a simple office procedure, it is often used instead of or in conjunction with hysteroscopy.
    4. Magnetic Resonance Imaging
      Magnetic resonance imaging is rarely needed for identification of intrauterine lesions. However, it can be useful for differentiating adenomyosis from myomas, and for complex congenital uterine abnormalities as well as other rarer uterine abnormalities or pelvic masses. Its high cost limits its general use, but it is helpful in selected situations.
    5. Laparoscopy and Hydrotubation
      Diagnostic laparoscopy can be performed with small instruments under conscious sedation in a properly equipped procedure room or in an operating room under general anesthesia. The procedure provides excellent diagnostic capabilities to evaluate the uterus, fallopian tubes, ovaries and pelvic surfaces. The primary diagnoses are tubal occlusion, adhesions, endometriosis, fibroids, congenital anomalies, and polycystic ovarian disease. Other intraabdominal organs can also be evaluated. Laparoscopy under conscious sedation provides very limited opportunities for therapeutic intervention if abnormalities are detected. The major advantages of laparoscopy is its accuracy in diagnosing infertility conditions and its therapeutic potential. The major disadvantage is cost and the fact it is an invasive procedure with the attendant potential complications. Laparoscopy may be performed following an abnormal hysterosalpingogram, sonohysterography, or hysteroscopy if the information acquired at laparoscopy will likely alter the treatment plan, or if it is expected that a condition can be effectively treated during the procedure.
  3. Cervical Factor Investigation

If your fertility specialist suspects that the source of infertility may be related to the interactions of the cervical mucus with the sperm, (s)he will most likely make use of the testing protocols outlined below.

  1. Post-Coital Test
    The post-coital test has been the standard test for evaluating cervical factor infertility. The test can help identify difficulty in timing intercourse, sexual dysfunction, poor cervical mucus, infection, low sperm count and/or motility, and the presence of antibodies. However, the test is not very accurate. It must be carefully timed to be performed at ovulation or else results are not interpretable. While more than 20 actively motile sperm per high power field is considered a normal test, it is likely that at least one actively motile sperm per high power field is within normal limits. The absence of good quality mucus suggests poor timing as much as a problem with cervical production of mucus, unless there is a historical reason for poor mucus production such as prior surgery on the cervix. The absence of sperm suggests azoospermia or oligospermia, while poor motility suggests a mucus, sperm, or antisperm antibody problem.
  2. Antisperm Antibody Tests
    This category includes the cervical mucus penetration test and immunobead antibody tests. These tests have limited use and are now done only rarely. Antisperm antibody tests may be helpful in selected patients with shaking sperm motion on the semen analysis or post-coital test, or history of testicular operation or injury.
  3. Female Cervical and Male Urethral Cultures
    Female cervical and male urethral cultures for E. coli, gonorrhea, chlamydia, and mycoplasma can be helpful in identifying infection in selected patients or in those undergoing intrauterine insemination or assisted reproductive technology procedures.
  4. Male Factor Investigation

If your fertility physician suspects that the source of infertility may be related to poor semen quality or other issues with the male reproductive tract, (s)he will most likely make use of the following tests:

  1. Semen Analysis
    hepaSemen analysis is the most direct, simple and cost-effective test of male fertility. At least two tests should be obtained four weeks apart unless the male has sired (impregnated a woman) within the past three years, in which case one test is sufficient. Semen volume should be between 1.0 and 5.0 mL, sperm concentration at least 20 million/mL; motility at least 30% progressively motile at 2 hours and morphology 15% or more normal by strict criteria. Borderline test results need to be interpreted cautiously since there are few data supporting the use of absolute cut-off points in borderline ranges. Extremely poor test results call for further intervention.
  2. Sperm Function Tests
    The hamster egg penetration assay (HEPA) and the hemizona assay (HZA) are sperm function tests which can help assess the ability of sperm to penetrate the egg. These tests will not definitively tell whether a pregnancy will occur, but an abnormal test result helps predict reduced fertilizing capability. These tests are performed only rarely today.
  3. Additional Tests
    For men with azoospermia, seminal plasma fructose should be obtained to document the status of the vas deferens. For men with azoospermic or severely abnormal parameters, FSH, testosterone and prolactin should be measured and testicular biopsy should be considered. Hormonal evaluation should also be performed in the presence of male sexual dysfunction. Karyotype may be indicated for individuals with suspected chromosomal abnormalities.