Diagnosis of Infertility
Health care professionals diagnose infertility by performing an infertility workup, a series of tests conducted in both the man and woman. The tests are done to check if the woman is ovulating and to look for any abnormalities in her uterus or fallopian tubes.
Hormone levels, including FSH, LH, prolactin, and progesterone, are also checked. A basic workup is usually done within one or two menstrual cycles. In men, the infertility workup involves performing a semen analysis to evaluate the quality and quantity of the man's sperm.
In many cases, men are examined for varicocele, which is a mass of dilated veins that develops within the scrotal sac. Varicocele can increase the temperature in the testes and affect sperm factors, such as sperm count. A surgical procedure called varicocelectomy can be used to treat varicocele. About 50% of men who undergo varicocelectomy to correct infertility father children within the first year. It often takes about 6 months for a sufficient quantity of new sperm to be produced to permit fertilization. Semen analysis usually is done at 3- and 6-month intervals after the operation.
The medical history is an important part of the workup for both partners. It provides helpful clues about lifestyle and other factors that may be associated with infertility. It's very important for the physician making the diagnosis to know, for example, whether the woman has endometriosis or has ever been diagnosed with pelvic inflammatory disease, or if the man has ever had testicular mumps or experienced an injury or trauma to his testicles.
Sometimes, during the medical history and initial physical exam, the physician may ask questions about the couple's sexual habits to make sure that sexual intercourse is indeed happening in a way that allows for conception.
Because fecundity (the ability to conceive) naturally decreases as people grow older, making it more difficult to conceive no matter how infertile one or both of the partners is, it is very important to begin diagnosis and treatment for infertility as early as possible. This is especially true for women who are older than 35 years old, since it's around that age that natural fecundity drops dramatically.
Women who are older than 35 (as well as couples who have been unsuccessful for several years) should have a CCCT (clomiphene citrate challenge test) performed so that their physicians can evaluate their ability to become pregnant on the basis of the number and quality of their remaining eggs.
If FSH levels are up to 15, women still may conceive, although not always with their own eggs. In these patients, acupuncture may be effective. Acupuncture improves blood flow to the ovaries and increases the delivery of hormones, oxygen, and nutrients, and decreases the excretion of dead cells. This frequently improves egg quality and can naturally normalize, or at least lower, FSH levels and increase fecundity.
Almost without exception, women who experience regular, predictable menstrual cycles are ovulating normally. Women who are experiencing any sort of abnormal bleeding may, on the other hand, be ovulating erratically or not at all. Anovulation - the absence of ovulation - accounts for approximately 25% of all female infertility cases.
Several hormone levels (e.g., PL, TSH, LH, FSH, progesterone) are routinely checked when investigating the cause of infertility. Anovulation is usually diagnosed by measuring the level of luteinizing hormone (LH) in a woman's urine with a LH predictor kit. A lower than normal LH level indicates that the woman is not ovulating, which partially explains her inability to conceive. The level of progesterone is tested 6 to 8 days after the LH surge that precedes ovulation. Lower than normal progesterone levels also indicate anovulation.
Blocked tubes and uterine abnormalities account for about 35% of all female infertility cases, thus it's essential that the tubes and uterus be examined during the workup, especially if anovulation doesn't appear to be the problem. The medical history often provides helpful clues about whether the tubes or uterus are involved. The patient's health care provider will likely ask her if she has any history of STDs or pelvic inflammatory disease, abdominal or pelvic surgery, ectopic pregnancy, endometriosis, or uterine abnormalities, all of which can lead to infertility.
Diagnosing uterine or tubal infertility factors usually involves an HSG as the first step and, depending on the results, could require a hysteroscopy or laparoscopy. Large fibroids in the uterus usually preclude a laparotomy.
HSG is an x-ray procedure known as a contrast study, which involves injecting a dye through the cervix into the uterus and fallopian tubes. The dye provides a greater contrast than normal on the x-ray picture. It allows the radiologist (a physician who specializes in interpreting x-ray images) to differentiate more easily between healthy tissue and abnormalities (e.g., uterine fibroids or polyps, blocked fallopian tubes, etc.). In the case of a hydrosalpinx (a damaged fallopian tube filled with excess fluid), the HSG can evaluate the extent of damage and whether surgery is warranted.
Severe hydrosalpinx can only be treated by removing the fallopian tube in a surgical procedure called salpingectomy. The excess fluid is noxious and can drip into the uterus and kill the embryo. In most cases, women with no additional pathology are able to become pregnant after surgery.
HSG is an essential first step for guiding the physician through the rest of the diagnosis and treatment. If the uterus and tubes appear normal, treatment should proceed as normal. If there are abnormalities or if initial treatment doesn't work, even though the HSG appeared normal, further surgical evaluation by means of a hysteroscopy, laparoscopy, or laparotomy may be necessary.
While hysteroscopy is not a surgical procedure, laparoscopy and laparotomy are and these procedures are rarely used for diagnostics unless every other option has been explored. Up to 60% of positive HSGs are false positives, indicating that the tubes may spasmed and not scarred or blocked. If the fallopian tube is in fact blocked, it is often blocked by a mucous plug, which often is removed during the HSG procedure.
HSG should be scheduled before ovulation, so if there is an egg or developing embryo present it doesn't get flushed out when the dye is injected. The procedure is usually fairly painless with only minor short-term discomfort, but it can be painful if there are blockages. Patients may want to talk to their doctor about taking pain medication before the procedure.
A hysteroscopy involves using a telescope-like instrument (called a hysteroscope) that is inserted through the cervix into the uterus and enables the physician to directly examine the inside of the uterus for abnormalities or growths. The procedure is usually done during the first half of a woman's menstrual cycle, before the endometrium thickens, making it difficult to see clearly.
Like the hysteroscopy, this procedure involves using a long, thin, telescopelike instrument, but the telescope is inserted through the abdomen, not the cervix. It allows doctors to see directly inside the pelvic region and provides them with a close-up view of the fallopian tubes, ovaries, and the uterus. Laparoscopy is a standard exploratory procedure for diagnosing endometriosis, which, if found, may or may not explain a woman's infertility.
A laparotomy is abdominal surgery done under general anesthesia. A laparotomy is a major medical procedure, requiring a hospital stay and several weeks recovery time. It has largely been replaced by the less invasive laparoscopy but in certain circumstances may be necessary.
A CCCT may be helpful to determine ovarian reserve, that is, how many remaining, viable eggs a woman has stored in her ovaries, and/or oocyte quality. Women are born with a limited number of eggs, or oocytes, which decrease in number and diminish in quality as they grow older.
The test involves analyzing the level of FSH (follicle-stimulating hormone) in a woman's blood on both the 3rd and 10th day of her period, the time between which she takes 100 mg of clomiphen citrate per day (a drug that induces ovulation and is in fact a frontline treatment for infertility). Abnormal FSH levels can indicate poor ovarian reserve and provide guidance for treatment.
A semen analysis is a simple test designed to measure the quality and quantity of a man's sperm—how it moves, what it looks like, and how much is present in the semen. After the man ejaculates into a sterile container, his semen is sent to a laboratory where it must be examined within two hours for accurate results. A semen analysis should only be performed after 2 or 3 days of abstinence from ejaculation. Some physicians recommend two analyses several weeks apart, since sperm counts may fluctuate over time. This is especially true if the man has been sick within the past 90 days, because sperm have about a 90-day life span and are affected by illness.
A normal sperm count generally means that there are more than 20 million sperm per milliliter of ejaculate, more than 30% of the sperm move normally, and more than 40% of the sperm look normal. If there are any significant abnormalities, the patient should be referred to a urologist to rule out any correctable diagnoses.
Another sperm parameter that is being used by some reproductive endocrinologists is the sperm DNA fragmentation assay. Recent research indicates that sperm quality influences not only rates of fertilization, but also subsequent embryo development. The markers of sperm quality used to predict pregnancy outcomes are not parameters included in standard semen analysis (sperm concentration, motility, and morphology) but rather the results of a sperm DNA integrity assay (SDIA). SDIA measures DNA damage in sperm reported as DNA fragmentation index (DFI) and high DNA staining (HDS).
The mechanism by which damaged sperm DNA affects pregnancy outcomes is not known. Testing is indicated for male partners in couples who have a history of unexplained infertility, poor embryo quality after in vitro fertilization (IVF), implantation failure after IVF, recurrent chemical or occult pregnancy loss, or recurrent early spontaneous abortions.
Damaged DNA in the single sperm cell that fertilizes a female egg can have a major impact on fetal development and on the health of the offspring. Recent studies indicate the following:
- Sperm DFI of 0–15%—high fertility potential
- Sperm DFI of 16–29%—good to fair fertility potential
- Sperm DFI greater than 30%—low to poor fertility potential
Semen samples that contain greater than 30% denatured DNA may result in few pregnancies through fertilization using IVF or ICSI. At this time, there is no medical or surgical treatment for this condition. Acupuncture, herbal medicine, and anti-oxidant therapies have produced the best results.