Diagnosis

• Overview
• Initial Consultation
• The Infertility Evaluation
• Follow-up Consultation
• Diagnostic Screening Tests
• The Female Infertility Evaluation
• The Male Infertility Evaluation

The Female Infertility Evaluation

General Screening Tests (Infectious, Genetic)

* Infectious Disease Screen. All couples going through a fertility evaluation must be screened for a variety of medical conditions. Testing for specific conditions, including Hepatitis B, Hepatitis C, Syphilis, and HIV must be completed prior to initiating treatment. Having one of these diseases could adversely affect your treatment outcome, pregnancy, and your general health if left undiscovered or untreated. Many of these infections may go undetected for significant periods of time without adequate testing.

* Pre-Pregnancy Screen. Additional tests, including a complete blood count, blood type & Rh factor, Cystic Fibrosis, and Rubella (German Measles) titer may be performed in order to avoid serious complications to the fetus that could result during pregnancy as well as to screen for anemia and possible other inherited disorders. While most people have been immunized for Rubella, in some cases a booster may be recommended in order to provide adequate immunity.

* Pituitary/Thyroid Screening. Your physician may recommend testing blood levels of Prolactin, Thyroid Stimulating Hormone (TSH), and thyroid hormones (free or total thyroxine). These hormonal tests screen for abnormalities that can affect your treatment – especially if you are not ovulating regularly.

* Adrenal/Ovarian Screening. There are many causes of irregular ovulation, including abnormalities of the adrenal glands and/or ovaries. Some women who experience irregular ovulation, or who fail to ovulate at all, experience symptoms such as an increase in hair growth, and/or acne. This hair growth usually occurs on the face, chest, or breasts and is occasionally caused by an overproduction of androgenic (male-type) hormones. In the event that your tests are abnormal, medication can frequently be prescribed that will reduce or eliminate the excessive hair growth and/or acne within a matter of a few months.

* Genetic Screening. Members of certain religious or ethnic groups are at an increased risk for specific medical conditions that can have a severe adverse effect on pregnancy. In such cases, your physician may recommend testing for Tay Sach’s, Cystic Fibrosis, and/or Sickle Cell Disease. If your history suggests that you may be at risk for certain other genetic, autoimmune diseases, or medical diseases, additional tests may be ordered prior to initiating your treatment.

* Pap Smear. All patients should have an up-to-date (usually within the past 12 months) Pap smear according to the American College of Obstetric & Gynecology standards.

* Breast Screening/Mammogram. Both the American College of Obstetricians & Gynecologists and the American Cancer Society recommend that all women should have a screening mammogram performed between the ages of 35 and 40.

Ovarian Function and Ovarian Reserve Screening

Disorders of ovulation account for approximately 30-40% of female related infertility. In the event that your cycles are not regular (monthly), if your cycles have recently changed, and/or if you have noticed certain other findings, such as a breast discharge or an increase in hair growth around your face, chest, or thighs, your physician may suggest some additional blood testing. This testing may include a serum Prolactin, TSH, Androgen levels, and/or Adrenal hormone levels

* Baseline Transvaginal Ultrasound Examination: This test, which may be performed on any day of the menstrual cycle, provides information on the overall size and volume of the ovaries. It also enables your physician to obtain an antral follicle count. Antral follicles are small (<10 mm) egg sacs within the ovary that may be capable of developing during the upcoming menstrual cycle. The finding of four or more antral follicles suggests the presence of normal “ovarian reserve”, ie. a reasonable number of oocytes present within the ovary and a better prognosis for subsequent fertility.

* Day “3” FSH & Estradiol Levels: Another method of evaluating ovarian reserve involves measuring FSH (follicle stimulating hormone) and Estradiol hormone levels drawn at the beginning of the menstrual cycle. Although these tests are referred to as “Day 3” labs in most lay literature, scientific studies have determined that results are just as accurate when blood is drawn on days 2, 3, or 4 of the cycle. Since ovarian reserve begins to decline as early as 10-15 years prior to menopause (the average age is 50-51 for most American women) we tend to initiate Day 3 testing in some women in their mid to late 30’s in order to provide appropriate counseling and determine which procedures and protocols are most likely to be successful.

Although Day “3” hormone testing is cited very often in both the infertility literature and on professional and lay Internet sites, most specialists agree that it is not a very sensitive test. In other words, although most women who have markedly elevated levels of FSH and/or Estradiol usually do not stimulate well and tend to have a poorer prognosis, levels that are minimally elevated may not be significant. In addition, since there can be quite a discrepancy in results between different laboratories, we strongly encourage you to have this test performed at a Clinical Pathology laboratory in order to ensure accurate interpretation.

* Clomiphene Citrate Challenge Test (CCCT): Changes that decrease a woman’s chances to reproduce may start many years before menopause actually begins. Some of these changes include a decrease in the number of oocytes (eggs), as well as an increased risk of chromosomal abnormalities within the oocytes that remain. While age itself is an important prognostic factor, not all women of the same age have the same reproductive potential. Like the Day 3 FSH and Estradiol level, the CCCT is another test of ovarian reserve. Women age 35 and over, as well as those who have a medical history suspicious for possible decreased ovarian reserve, may be asked to undergo a CCCT. In order to complete the CCCT, blood is drawn on days 3 and 10 of the menstrual cycle for FSH and Estradiol levels. A medication called Clomiphene Citrate will be taken on days 5 through 9 of the menstrual cycle. A marked elevation in Day 10 hormone levels may signify impaired ovarian reserve. Again, due to variability between laboratories, we ask that these hormone tests be performed at a Clinical Pathology laboratory.

Tubal Evaluation

Issues with the fallopian tubes account for approximately 30% of female infertility problems. Common problems result from tubal blockage or scarring from previous, sometimes undiagnosed, pelvic infection. Other conditions, such as abdominal infections like appendicitis, prior surgeries, prior ectopic pregnancy, or endometriosis may also lead to fallopian tube damage. Tubal blockage or scarring may occur from previous pelvic or abdominal infection, pelvic surgery, ectopic pregnancy, or endometriosis. Prior tubal ligation (tying of the tubes) for contraception would also prevent the tubes from functioning normally.

* Hysterosalpingogram (HSG): This is an X-ray test that will be performed in a radiology office by either a radiologist or a technician. After placing a speculum in the vagina, a small catheter transfers a small amount of dye into the uterus and tubes in order to evaluate the structure of the uterine cavity and determine if the tubes are open. Patients with known allergies to iodine or shellfish will need to inform the radiologist so that they can be pre-medicated in order to avoid an allergic reaction. Women with a history of a severe allergic reactions may be asked to forego this test. Although the risk of infection from an HSG is minimal (approximately 1%), we will give you a prescription for an antibiotic to take around the time of this test in order to further decrease this risk.

Uterine Evaluation

The uterus (womb) is lined by a specialized layer of cells called the endometrium. It is on this lining that embryos implant and begin to develop in pregnancy. It is critical to thoroughly evaluate the uterine cavity for potential defects or obstacles to implantation of the embryo. Examples of such include uterine scar tissue (from previous pregnancies or procedures), polyps (benign glandular growths), fibroids, or other structural defects in the uterus. Depending on your specific situation, a uterine evaluation may include some or all of the following tests:

* Complete physical examination and external palpation of the uterus. This will enable your physician to assess the size, shape, and contour of the outside of the uterus, as well as the mobility of the uterus.

* Pelvic Ultrasound: This is an ultrasound examination performed by placing a probe (medical camera) into the vagina. A transvaginal ultrasound provides images that are much more clear than those obtained by placing the probe on the abdominal wall. This examination may be performed at the onset of your menstrual cycle on Day 2, 3, or 4 or it may be performed midcycle. Midcycle examinations (performed when the lining is at its thickest point) may provide more information about the quality and integrity of the endometrial cavity..

* Hysterosalpingogram (HSG): This test, previously described in the tubal evaluation section, is often very useful in diagnosing structural defects of the uterine cavity.

* Sonohysterography (saline sonography): This test represents a combination of the HSG and transvaginal ultrasound, as a sonographic evaluation of the uterine wall and inner uterine cavity is performed while filling the uterus with a very small amount of sterile fluid. This test can be performed at TFC, and may provide information on abnormalities of both the uterine wall and endometrial cavity, which could affect implantation of an embryo, increase miscarriage rates, and/or interfere with subsequent delivery of a baby. In some cases, findings on this test prompt the physician to recommend further evaluation with a diagnostic hysteroscopy (see below) or possible surgical correction of an abnormality.

* Diagnostic Hysteroscopy: Hysteroscopy involves the passage of a small telescope through the cervix into the uterus. This test may be recommended for patients undergoing advanced reproductive treatments such as IVF or for those who have an equivocal or suspicious finding on an HSG or sonohysterography. Performed by your physician in the operating room, this test uses extremely high resolution fiber optic cameras to visualize and provide color pictures of the inner lining of the uterine cavity and openings of the fallopian tubes. In the event that abnormalities are encountered, they can be corrected at the same time. The procedure is usually performed under light intravenous sedation.

* Endometrial Biopsy: The endometrial biopsy used to be an integral part of the infertility evaluation. This test supposedly checks to make sure that there is synchrony between the uterine cycle and the ovarian cycle (ie. that they are at the same stage of development). It is also important to know that the luteal phase – the time from ovulation to the beginning of the next menstrual period – is at least twelve days long.

In order for pregnancy to occur, a fertilized egg must attach to the uterine lining. If the uterine lining development is either delayed or too far advanced, then implantation is much less likely to occur. Such dyssynchrony is called a “luteal phase defect” (LPD). While initial research suggested that pregnancy rates were lower in the presence of an LPD, many more recent studies have cast significant doubt on those earlier reports. In addition, as up to 30% of fertile women can have a single abnormal endometrial biopsy, a true diagnosis of LPD requires the finding of an abnormal endometrial biopsy in two consecutive menstrual cycles. This test is somewhat uncomfortable and, therefore, in the absence of definitive data showing its significance, most fertility specialists no longer perform routine endometrial biopsies. We may, however, ask you to monitor your cycle closely in order to confirm that your luteal phase lasts at least twelve days.