Genetic Testing

Genetic testing may be done to determine whether there's a genetic defect causing infertility. Genetics is thought to be a contributing factor in 5 to 10 percent of couples who experience infertility or recurrent pregnancy loss:

• 1 in 4000 men in the general population have Y chromosome deletions that can contribute to infertility. (About 20 percent, or 1 in 5, men who don't make any sperm have Y deletions.)
• At least 1 in 500 people in the general population have chromosomal rearrangements or inversions that can contribute to infertility. And, 1 in 20 couples who experience infertility have a chromosomal rearrangement.
• Depending on ethnicity, 1 in 20 to 1 in 2500 people have changes in one or both copies of the cystic fibrosis gene that can contribute to infertility.
• 1 in 246 to 1 in 468 Caucasian women are believed to carry a Fragile X premutation, which can contribute to infertility.

Test results can help you identify if reproductive treatments such as IVF are likely to bring success, find peace-of-mind by identifying the potential cause of your infertility, and help you decide whether to consider alternative options such as egg or sperm donation, surrogacy, or adoption.

Types of Tests

Women take tests that look for:

• Changes in chromosome structure or number
• Changes in the Fragile X region of the X chromosome

Men take tests that look for:

• Changes in chromosome structure or number
• Missing regions on the Y chromosome (also called Y deletion)
• Changes in the cystic fibrosis gene

Which tests are appropriate for you depends on your personal history and what you know about your fertility.

Insurance policies usually cover testing according to medical necessity, but coverage will depend on your individual policy. If it is billed as being related to infertility, most insurers will not provide coverage.


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