# Handbook of Genetic Counseling/Infertility

Infertility

## Much more than "just a female problem"

* Infertility is a condition of the reproductive system. It refers to actively trying to conceive for one year without achieving a pregnancy.
* Infertility includes difficulty conceiving, as well as the inability to carry a pregnancy to term that results in a live birth.
* There are two types of infertility. Primary infertility refers to cases where there has never been any evidence of pregnancy. Secondary infertility refers to cases of miscarriage (where a pregnancy has previously been indicated).
* Infertility may have one or several causes and is diagnosed with a series of tests comprising an "infertility work-up".
* Approximately 40% of infertility is due to a female factor and 40% is due to a male factor. In 10% of the remaining cases, the infertility results from problems due to the combination of factors in both partners. The other 10% of cases cannot be explained.
* Infertility affects 14-20% of married couples in the United States.

## Common Causes of Infertility

* Female:
** advanced maternal age (past 35, it becomes harder for the pituitary to stimulate the ovaries)
** history of pelvic inflammatory disease
** history of miscarriage
** tubal factors (blockage from infection or adhesions)
** peritoneal factors (endometriosis)
** inability to ovulate (polycystic ovarian disease, premature ovarian failure, hypothyroidism, hyperprolactemia)
** uterine factors (fibroids, polyps, septum or other abnormality)
** cervical factors (hostile environment, anti-sperm antibodies, too little or too much mucus, surgery/biopsy scars)
* Male:
** low semen volume (producing less than 1 or 2 cc)
** low sperm count (less than 20 million per cc)
** inappropriate sperm morphology
** poor sperm motility
** inability of the sperm to progress or move forward

## Infertility Testing: What can we do?

* physical examination of both partners - determine their general state of health and to evaluate physical disorders that may be causing infertility. Usually both partners are interviewed about their sexual habits in order to determine whether intercourse is taking place properly for conception.
* If no cause can be determined at this point, more specific tests may be recommended. For women, these include an analysis of body temperature and ovulation, x-ray of the fallopian tubes and uterus, and laparoscopy. For men, initial tests focus on semen analysis.
* karyotyping - check the couple's chromosomes for aneuploidy, rearrangements, or balanced translocations

## Infertility Treatments: What are the options?

* Assisted reproductive technologies (ART) is a collective term which refers to a variety of medical procedures used to achieve a pregnancy
* in vitro fertilization (IVF) - sidesteps tubal factors by bypassing the fallopian tubes
* hormone treatments - eliminates ovulation problems by using medication (such as Clomid) to stimulate the ovaries
* intrauterine insemination - bypasses cervix factors
* surgery - eliminates uterine factors by removing a septum or treating endometriosis
* Intracytoplasmic sperm injection (ICSI) - uses IVF (which only requires one sperm) to avoid male sperm factors
* donor eggs, donor sperm, surrogate carriers
** Please keep in mind. . .Infertility often creates one of the most distressing life crises that a couple has ever experienced together. The long term inability to conceive a child can evoke significant feelings of loss. Coping with the multitude of medical decisions and the uncertainties that infertility brings can create great emotional upheaval for most couples. Couples often feel anxious, depressed, out of control, and isolated.**

## Resources

* www.asrm.org
* www.resolve.org

## Notes

The information in this outline was last updated in 2001.