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THE INFERTILITY HAT TRICK: KNOWING THE TOP THREE ISSUES FOR DIAGNOSIS

John S. Rinehart MD, PhD, JD, Founding Partner/Reproductive Medicine Institute 

Infertility is a symptom and not a specific disease. There are many causes of infertility and for some couples more than one cause may be present.


Why is it important to make a diagnosis? The purpose of making a diagnosis is to provide information that can be used to make predictions about the chance of success if nothing is done, or if intervention is required.   The best success is achieved when the suggested treatment actually corrects the cause of the infertility.  The necessity for an accurate diagnosis requires the involvement of a medical professional, ideally a Board Certified Reproductive Endocrinologist and Infertility (REI) specialist.


Since infertility has many different causes and sometimes more than one cause is present, evaluations need to be complete. By having a comprehensive workup initially, your Reproductive Endocrinologist can determine which diagnosis needs to take priority.  For example, a slight abnormality on the semen analysis will have a different level of significance for a woman who is 25 as compared to a woman who is 40 years old.


For conception to occur in a normal time frame, three things have to be normal: eggs, sperm, and female anatomy. Tests have been designed to assess each of these requirements, called screening tests. They are designed to help make predictions and are not specific to a unique cause. For example, an abnormal semen analysis suggests there is a reduced chance of conception because of the sperm. It does not tell why there is a reduced number of sperm or which gene is defective.   It only says to use male factor to make your predictions. 


THE BIG THREE IN INFERTILITY


What is male factor? 

The universally utilized test for male factor is the semen analysis. That is good news and bad news. The good news is that when the semen analysis falls within the normal range as determined by the World Health Organization, the cause of the infertility is not male factor (with rare exceptions). The bad news is that when the semen analysis is abnormal, it really is somewhat useless. Common sense would say that the more abnormal the results, the less the likelihood of achieving a successful pregnancy, and to a large extent that is true. Certainly a male with a sperm count of one million has much less of a chance of creating a pregnancy than a man with a count of 14 million. One suggested way to simplify this is to look at the total motile sperm count. If the count is > 20 million then that is normal; if it is 5 million, this correlates with a significant male factor; and in between is…well, in between! So what good is this approach? For the over 20 million, a different cause of the infertility needs to be sought. For the < 5 million, IVF with ICSI (manually inserting sperm into the egg) is indicated. For the in between, a more thorough investigation and perhaps medical treatment may be possible.


How about the female anatomy?

How does female anatomy play a part? The issue here concerns the cavity of the uterus, the fallopian tubes, the muscle part of the uterus, the ovary, and the number of eggs (egg?) units in the ovary. Traditionally the x-ray dye test (remove?) called a hysterosalpingogram was used to assess if the tubes were open or blocked. Like the semen analysis, the test is very accurate if it says the tubes are open. But if the test says the tubes are blocked, it is only correct 40% of the time. Furthermore, the HSG does not provide information about the ovary. Recently, ultrasound that infuses water into the uterus has been used. This gives important information about the uterus, the cavity of the uterus, the patency of the tubes and the status of the ovary. If this test is uncertain, then other tests such as the HSG, MRI, hysteroscopy, or laparoscopy can be used.


Is it the Eggs (oocytes)?

Determining if a woman has structurally normal eggs that provide a normal chance of pregnancy is difficult at best. A number of tests have been used but most lack a high degree of accuracy. Here, unlike the HSG and semen analysis, an abnormal result indicates an egg problem. But a normal result does not mean normal fertility. For example, a 41 year old female may have normal egg testing (called ovarian reserve) but still does not have the same fertility potential she had when she was 20 due to age related declining egg quality. Testing most commonly used to assess ovarian reserve are the day 3 FSH, LH, and estrogen. More recently the hormone AMH has been used. An FSH > 10 or an AMH < 1 are concerning. However, none of these tests are useful if normal. For many women, the true test of the quality of her eggs can only be determined by doing IVF and testing the embryos to see if they have the correct number of chromosomes.

Other tests are frequently obtained based upon the history of the couple. For example, TSH is almost always obtained. Frequently prolactin, DHEA-s, testosterone, hemoglobin A1C, and an antral follicle count done at the time of an ultrasound will also be obtained.


Keeping it simple, or at least succinct! 

  • A diagnosis must be determined BEFORE treatment begins. It is inappropriate to use clomid without a diagnosis including assessing male factor.
  • The diagnosis should provide information that can be used to make two predictions:
  • What is the chance of conceiving if nothing is done? AND
  • Are there treatments that are indicated that would improve the odds of doing nothing?  If it is the latter, then determine the following about potential treatments with your physician):

What are they?  How successful are they? What is the risk?  What is the time commitment? How many attempts are indicated? What is the cost? What would be the normal progression through the treatment options?


Armed with this information people can decide which path, if any, to choose based upon their specific circumstances and desires.