How is infertility diagnosed?

In evaluating a woman's fertility, a health care provider will ask specific questions about her health history. These include:^1,2

• Prior pregnancies
• Prior miscarriages
• The regularity of her menstrual period
• The presence of pelvic pain
• Whether she has abnormal vaginal bleeding or discharge
• Whether she has a history of pelvic infection or previous pelvic surgery

Initial screening may also involve a physical exam, including a pelvic exam or pelvic ultrasound, a Pap test, and blood tests to look at overall health. The health care provider may look for signs of milk production in the breasts, which suggests a hormone imbalance, and other physical symptoms of polycystic ovary syndrome and other conditions that affect fertility.

A health care provider may also conduct the following laboratory tests and evaluations:^1,2

• A blood test around day 23 of the woman's menstrual cycle can measure the amount of a hormone called progesterone. This test can tell whether ovulation has occurred and whether the ovaries are producing a normal amount of this hormone.
• Tests may also measure levels of other hormones that are important for fertility. The levels of follicle-stimulating hormone (FSH) and anti-Müllerian hormone (AMH) in the blood can help determine the quantity of a woman's remaining egg supply. FSH stimulates egg production and a hormone called estradiol. High FSH levels may mean that a woman has ovarian failure or is in perimenopause or menopause. Low levels of FSH may mean a woman has stopped producing eggs. AMH is produced only in ovarian follicles, so the levels of AMH in the blood indicate the presence of growing follicles.
• Other tests may include those to examine the fallopian tubes and determine whether there is blockage that prevents movement of the egg from the ovaries. These include the following:
  • X-ray hysterosalpingogram (pronounced HISS-tuh-roh-sal-PING-goh-gram). A health care provider injects a radiographic dye into the cervix to fill the uterus. If the fallopian tubes are clear of blockages, the dye will flow out the end of the fallopian tube into the peritoneal cavity. Movement of the dye is monitored by x-ray fluoroscopy.
  • Laparoscopy (pronounced lap-uh-ROS-kuh-pee) is a surgery in which a small viewing instrument, called a laparoscope, is inserted through a small cut in the abdomen to examine the female reproductive organs. If the procedure identifies blockages in the fallopian tubes, the blockages can be surgically treated with instruments attached to the laparoscope.
• A health care provider may examine the inside of the uterus to look for scarring, uterine fibroids, or polyps. The following procedures are used to examine the uterus:
  • Transvaginal ultrasound. An ultrasound looks at the internal organs using sound waves. A wand inserted into the vagina applies sound waves to the body. This provides a health care provider a better view of the female reproductive organs, including the uterus and ovaries.
  • Hysteroscopy (pronounced hiss-tuh-ROS-kuh-pee). A hysteroscope is a long, thin camera that is inserted through the vagina and into the uterus.
  • Saline sonohysterogram (pronounced sah-noh-HISS-tuh-roh-gram). In this procedure, a health care provider injects sterile saline into the cervix to fill the uterus. Once the uterine cavity is full, it is easier to see its inner lining. The pelvic organs are visualized with transvaginal ultrasound. It is also possible to see fluid move into the peritoneal cavity at the same time, which indicates that at least one tube is open.
• Health care providers may test a woman older than age 35 to get a snapshot of the number of remaining follicles or if her follicles mature to the stage of ovulation. This type of testing includes performing a transvaginal ultrasound to look at the ovaries and measuring hormones in the blood on certain days of the menstrual cycle.

The evaluation of a man's fertility includes looking for signs of hormone deficiency, such as increased body fat, decreased muscle mass, and decreased facial and body hair. The evaluation also includes questions about the man's health history, including:³

• Past injury to the testicles or penis
• Recent high fevers
• Childhood diseases, such as mumps
• Low sexual desire (libido)

A physical examination of the testes and penis allows for identification of problems, such as:¹

• Infection, signaled by discharge or prostate swelling
• Hernia
• Malformed tubes that transport sperm
• Hormone deficiency as indicated by small testes or lack of facial and body hair
• Presence of a mass in the testicles
• Varicocele (abnormal veins in the scrotum)

A health care provider may also ask a man to provide a sample of semen to assess the health and quality of his sperm. To give a semen sample, the man is requested to refrain from ejaculation for around 48 hours before the test. He then provides a sample by masturbating into a cup or by having intercourse using a special condom (without contraceptive) that collects semen without affecting the sperm. A man may need to provide a semen sample on more than one occasion, because sperm production can vary over time depending on the man's current health status, activities, and stress level.

Other tests may include:^1,3

• Measurement of hormones in the blood, including testosterone and follicle-stimulating hormone, thyroid hormones, and prolactin
• Biopsy of the testicle. A health care provider uses a needle to extract sperm from the testicle.
• Genetic testing. In cases where no or very few sperm are found in the semen, a health care provider may do genetic testing before starting fertility treatments. Testing can identify chromosome abnormalities that may cause the lack of sperm or lead to developmental problems among offspring.