Couples are generally advised to seek medical help if they are unable to achieve pregnancy after a year of unprotected intercourse. If the woman is over the age of 35, a medical evaluation of both the male and female may be recommended after only six months.
A reproductive endocrinologist is a subspecialist who has had additional fellowship training beyond the obstetrics and gynecology residency in order to be able to care for complex reproductive problems including hormonal abnormalities, menopause, and infertility using advanced reproductive technologies. For more information, see http://www.socrei.org/uploadedFiles/Affiliates/SOCREI/Publications/SREI_brochure.pdf
Getting yourself into optimum condition prior to pregnancy involves the establishment of a healthy lifestyle and screening for disorders or genetic carrier state. Healthy lifestyle requires eliminating habits that may be detrimental such as cigarette smoking or excessive alcohol or caffeine intake. Proper diet and exercise are recommended as well. Women with diabetes or hypertension should see their medical doctors about getting these diseases in the best control possible before conceiving. Women who are obese should strongly consider weight loss prior to getting pregnant.
Folic acid intake has been shown to reduce the risk of certain birth defects (neural tube defects). This may be accomplished by the daily intake of at least 400 micrograms of folic acid. Genetic screening may be recommended based on ethnicity.
A complete history and examination is usually the first thing that is done upon seeking assistance from a fertility specialist. Information about past pregnancies, menstrual cycles, prior gynecologic problems, medical disorders, prior surgery, and environmental exposures like tobacco and alcohol, are all critical in assessing the cause of infertility. Testing includes the semen analysis, hysterosalpingogram (HSG), and ovarian reserve testing (for women over 35).
Semen specimens for analyses are usually collected on-site or locally, as they need to be evaluated within 1 hour of production, and not exposed to excessive heat or cold. All it is usually recommended that specimens be collected after an abstention from ejaculation for two to five days prior to providing the sample. Shorter or longer periods of abstinence may yield suboptimal semen specimens. Semen collection instructions usually recommend avoidance of use of any lubricants due to concerns about their effect on the sperm parameters.
The semen analysis includes evaluation of the volume of the ejaculate, the concentration of the sperm (count), the % of the sperm that are moving (motility), and an assessment of the % of normal appearing sperm (morphology). Additionally, the presence of increased numbers of white blood cells may be an indication of an infection in the male reproductive tract. The findings are compared to the normal values determined by that laboratory. Sometimes, a second semen analysis will be requested if the initial one is abnormal to confirm that the findings are persistent. The finding of semen abnormalities may be an indication for a referral to a male infertility specialist or urologist.
An HSG is a test that can demonstrate whether the fallopian tubes are open (patent) or blocked (occluded). It involves the injection of x-ray contrast into the cervix with a catheter under x-ray fluoroscopy. The procedure is often associated with some cramping and discomfort, and many practitioners recommend taking ibuprofen or another pain medication prior to the procedure. Most patients do tolerate the procedure well, however. If the test shows that the tubes are blocked or abnormal, then further testing may be necessary. Treatment of tubal blockage at the beginning of the tubes (proximal tubal occlusion) may be done radiologically (recanalization) by inserting small wires or catheters into the tubes directly transcervically, or sometimes may be done surgically (hysteroscopic tubal cannulation). Treatment of distal tubal occlusion (at the ends of the tubes) may require a laparoscopy or IVF.
The term ovarian reserve describes a woman’s reproductive potential with respect to the number of ovarian follicles and egg quality. The levels of FSH and estradiol on day 2 or 3 of the menstrual cycle are often used to test for ovarian reserve. Elevations in FSH or estradiol may indicate decreased ovarian reserve and may predict a poorer prognosis in women of older reproductive age. More recent ovarian reserve tests are being evaluated for clinical use including ultrasound evaluation of the number of visible follicles (antral follicle count) and measurement of a substance called anti-Mullerian hormone (AMH).
Fertility declines with increasing female age, beginning as early as the late 20’s and early 30’s, and is most pronounced in women over 35. This is believed to be related to a decline in ovarian reserve and a higher incidence of oocyte (egg) abnormalities. The decline in fertility is accompanied by an increase in the rate of miscarriage. Evaluation and treatment of infertility should not be delayed in women over 35 who have attempted conception for over 6 months.
Anovulation may be caused by several endocrinologic disorders. Screening for abnormal thyroid function or elevations in the hormone prolactin is typically required. In these cases, specific treatment of those disorders is necessary. Many women who are anovulatory have polycystic ovarian syndrome (PCOS) which is diagnosed when there is evidence for elevations in androgen levels (like testosterone) and ultrasound findings of many small immature follicles in the ovaries. These women may be benefit from clomid treatment or in some cases with insulin sensitizing medications like glucophage. Women who don’t menstruate at all (amenorrhea) require investigation to assess the cause of the problem that may relate to abnormalities of the brain (hypothalamus and pituitary gland) or the ovaries. These women may require more involved treatments, like injectable fertility medications.
After the initial infertility evaluation, if nothing specific cause is found; “unexplained infertility” is diagnosed. Approximately 20% of fertility patients are diagnosed with unexplained infertility. Treatments for unexplained infertility include intrauterine insemination (IUI) with either oral or injectable medications like clomiphene citrate (oral medication) or with (injectable) FSH stimulation, or in vitro fertilization (IVF). With unexplained infertility, the monthly conception rate without clinical treatment is low (under 5%). Thus, treatments that improve upon that are utilized. The chance of becoming pregnant after 3 or 4 treatment cycles of IUI with clomiphene is about 20 to 25%; with IUI with injectable FSH is about or 30 to 35%, and with IVF is as high as 75 to 85% in young women.
Age is important with regard to success rates. Usually, treatment begins with IUI with clomiphene for 3 to 4 cycles. If that is unsuccessful, either IUI with FSH or IVF is considered. This choice is made after weighing the costs, success rates, and especially multiple pregnancy rates, given the high risk involved. IVF may be chosen because of its higher success and lower risk for triplets. In addition, there is more control over multiple pregnancy risk since one may choose to transfer fewer embryos. With more liberal use of elective single embryo transfer, the multiple pregnancy rate with IVF will continue to diminish. The goal should be to arrive at a singleton pregnancy in the safest way possible and as quickly as is appropriate for that couple.
Recurrent pregnancy loss is a disease distinct from infertility defined by 2 or more failed clinical pregnancies (a visible gestational sac on ultrasound). Evaluations of RPL may include blood tests, uterine exams, and genetic screening. The purpose of the evaluation of recurrent pregnancy loss is to identify causes that may be treated prior to achieving another pregnancy. Specific causes are identified in approximately half of patients. The investigation usually includes several blood tests and an examination of the uterus.
Genetic testing of both the male and female is performed in order to identify the presence of a chromosomal translocation. In such cases, a small piece of the chromosome in one of the parents is “broken off” and located on another chromosome. That parent is normal; however, when an egg or sperm is made it may contain the extra piece, which upon fertilization may result in an embryo with abnormal chromosome content. This can result in recurrent miscarriages. Future fertility treatment is possible with IVF and PGD.
Evaluation for the antiphospholipid syndrome or for thrombophilia requires several blood tests. If any of these are abnormal, treatment may be necessary during pregnancy that may prevent further miscarriages.
Testing of the uterine cavity is typically accomplished by a hysterosonogram (HSN) which is a simple office procedure requiring the installation of saline into the uterus with a catheter and an ultrasound. If a fibroid, polyp, or uterine anomaly is discovered, these may be surgically treated prior to further pregnancies.