Can You Test for Infertility?
If you and your partner are struggling to have a baby, you’re not alone. Approximately 10 to 15 percent of couples experience infertility. If you have been actively trying to get pregnant for 12 months or more (and you are under the age of 35), or 6 months (and over the age of 35), there are various testing options – like genetic testing – that may be able to explain why you are having difficulties.
Infertility is most often defined as not being able to get pregnant after one year of frequent unprotected intercourse. If you have questions about your fertility, you may want to discuss your concerns with your health care provider. The American College of Obstetricians and Gynecologists (ACOG) recently published guidelines regarding the initial work-up that should be performed by your doctor if infertility is suspected. The work-up for both males and females includes a medical history, physical exam, and additional tests such as genetic testing.
If either you or your partner have a family history of certain genetic conditions or health problems, it may be beneficial to consult with a genetic counselor early in your reproductive journey. Some factors, either personal or in your family history, that may increase your risk for infertility include:
- A personal diagnosis of a genetic condition, such as Turner syndrome, Klinefelter syndrome or cystic fibrosis
- A personal or family history of multiple miscarriages
- A history of irregular periods
- A history of absent, low, or irregular sperm
How Can You Test for Infertility in Women?
Female infertility can have multiple causes, including hormone changes, issues with ovulation, endometriosis or structural changes of the reproductive system. There are many different evaluations that are recommended for women that are experiencing infertility. This can involve obtaining a medical history, physical examination, and additional tests that evaluate ovarian reserve, ovulatory function, and structural abnormalities. These tests include:
- Genetic testing: Genetic testing can be done to determine whether you carry a genetic change that could be impacting your fertility. The two main types of genetic testing available for women experiencing infertility are:
- Genetic carrier screening (including the gene for fragile X syndrome): This test can identify individuals and couples at risk to have a child with a genetic condition by analyzing their DNA to see if they are a carrier for a variety of genetic conditions.Carriers of a genetic condition typically do not have the condition themselves, but could pass it on to their children. Many carrier screening panels include the gene for fragile X. Women who are carriers of fragile X are at increased risk to have primary ovarian insufficiency (POI), which occurs when the ovaries stop functioning normally before the age of 40. Additional information regarding carrier screening prior to or during your reproductive planning can be found at Preconception Genetic Testing.
- Karyotype: A blood test to analyze the number and structure of one’s chromosomes. A karyotype can detect Turner syndrome and chromosome rearrangements.
- Ovulation testing: Ovulation tests can determine the days that you are most likely to be fertile, by measuring a compound called luteinizing hormone (LH), which typically rises a few days before ovulation.
- Hysterosalpingogram (HSG): An outpatient x-ray procedure that can determine if there are any changes to your reproductive organs (such as your fallopian tubes or your uterus) which could be impacting your fertility.
- Transvaginal ultrasound: An outpatient procedure that allows the clinician to check the uterus and ovaries for findings such as ovarian cysts or fibroids, by placing an ultrasound wand into the vaginal canal.
- Hysteroscopy: A surgical procedure that allows the clinician to detect findings in the reproductive organs that may be causing infertility, such as scar tissue, polyps, and fibroids, by inserting a lighted scope into the cervix.
- Laparoscopy: A surgical procedure that allows the clinician to insert a lighted scope through the abdominal wall, in order to detect endometriosis or adhesions. This testing is usually performed as a follow-up step if previous results or history suggests that these issues may be present.
How Can You Test for Infertility in Men?
Male infertility can be caused by low sperm production, abnormal sperm function or blockages that prevent the delivery of sperm. Evaluation for males with infertility involve a thorough medical history, physical exam, semen analysis, blood work, and possibly ultrasound exams. These tests include:
- Genetic testing: Genetic testing can be done to determine whether you carry a genetic change that could be impacting your fertility. The three main types of genetic testing available for men experiencing infertility are:
- Genetic carrier screening (including the gene for cystic fibrosis): This test can identify individuals and couples at risk to have a child with a genetic condition by analyzing their DNA to see if they are a carrier for a variety of genetic conditions. Carriers of genetic conditions typically do not have the condition themselves, but could pass it on to their children. Many carrier screening panels include the gene for cystic fibrosis (CF). Men who carry certain genetic changes in the gene for CF may have absent vas deferens, which would not allow for sperm to be transported.
- Karyotype: A blood test to analyze the number and structure of one’s chromosomes. A karyotype can detect Klinefelter syndrome and chromosome rearrangements.
- Y chromosome microdeletion studies: A blood test to target if specific regions of the Y chromosome that impact sperm development are missing.
- Semen analysis: A test that analyzes the quantity and quality of sperm by measuring the amount of semen, the total number and concentration of sperm, and sperm movement and appearance. The semen sample is typically collected in an office setting as the analysis needs to occur within one hour of collection.
- Hormone testing: A blood test to measure hormones follicle-stimulating hormone (FSH) and testosterone (T) that control sperm production. Either an excess amount or a decrease in these hormones can cause issues with sperm production.
Can You Test for Infertility At Home?
When testing either males or females for causes of their infertility, many clinicians recommend first performing the least invasive methods that can detect the most common causes. However, many of the evaluations that are part of the infertility work-up need to be performed in a clinic setting.
Most types of genetic testing can be performed through samples collected while at home, as the testing is done on DNA collected from either saliva or a cheek swab. There are some genetic tests that can only be done through a blood sample, and options exist for collecting blood samples at local laboratories or through mobile phlebotomy.
Genetic counselors at Genome Medical can help you understand the potential causes of your infertility, and can help guide you through your reproductive journey. Genome Medical is a nationwide practice of genetic experts that can assess your concerns regarding your fertility, and discuss the potential benefits of genetic testing. A Genome Medical genetic counselor will interpret your personal reproductive and family history to make appropriate recommendations.
The Genome Care Navigator™ empowers you to be more genetically aware so you can make more informed decisions about your reproductive journey. Through a self-navigated education session, you’ll gain faster, more direct access to genetic experts, who will assist you in further reviewing genetic testing options.
How Much Does Infertility Testing Cost?
If your clinician recommends that you undergo a series of tests for infertility, you should check if these tests can be covered by your health insurance to minimize out-of-pocket expenses. Also, many fertility centers have payment plans and financing options to support their patients and couples.
Most insurance companies cover basic genetic carrier screening, which tests for a few genetic disorders that are recommended for everyone or recommended for people with specific ancestries. Genetic carrier screening may have out of pocket costs between $0 and $400 depending on insurance coverage, the laboratory used, and the number of conditions screened. Additionally, most insurance companies will cover at least some of the costs of karyotype analysis for individuals that have experienced infertility.
If you have additional questions about the costs of genetic testing, please visit How Much Does Genetic Testing Cost for Pregnancy?