Diagnostic Testing: What you need to know

Infertility diagnostics typically focus on assessing the reproductive health of those interested in building a family to provide a holistic view of potential challenges. Medical procedures such as ultrasounds, hysterosalpingograms (HSG), and semen analysis offer detailed insights into structural and functional issues, while lab tests evaluate hormonal imbalances or underlying medical conditions. Additionally, advancements in at-home fertility testing kits now allow individuals to gather preliminary information about their fertility health in the comfort of their own homes.

Navigating these options can feel overwhelming, but asking the right questions can empower you to make informed decisions.

• What tests should you start with?
• How do medical and lab-based options compare with at-home tools?
• What are the next steps if a potential issue is identified?

Understanding the diagnostic process and knowing what to expect at each stage can make this journey less daunting and more empowering.

By uncovering the root causes of infertility, diagnostic testing enables tailored treatment plans that improve the chances of success. Whether it’s addressing hormonal imbalances, identifying structural concerns, or exploring genetic factors, early and accurate diagnosis is the foundation of effective fertility care.

Lab testing begins with a simple blood draw or semen sample, followed by a detailed analysis in a lab. These tests provide essential data that guide further diagnostics or treatment options.

For Women:

• Hormonal Testing: Blood tests measure hormones such as follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol, progesterone, and thyroid hormones to assess ovarian reserve and ovulation. Elevated prolactin levels can also indicate conditions that may interfere with conception.
• Anti-Müllerian Hormone (AMH): This test assesses ovarian reserve, helping to evaluate egg supply.
• Autoimmune and Genetic Screening: Blood tests can reveal conditions that may impact fertility.

For Men:

• Hormonal Testing: Blood tests evaluate testosterone, FSH, and LH levels, which are crucial for sperm production.
• Genetic and Autoimmune Tests: These tests identify potential barriers to fertility-related to inherited or immune conditions.

For Both:

• Infectious Disease Screening: Ensures neither partner has infections, such as HIV or hepatitis, that could impact fertility or pregnancy.

When lab tests don’t provide enough information, medical procedures help uncover structural or functional issues affecting fertility.

For Women:

• Hysterosalpingo-Foam Sonography (HyFoSy): A minimally invasive ultrasound technique that uses a contrast agent to evaluate the uterus and fallopian tubes for abnormalities or blockages.
• Hysterosalpingography (HSG): This X-ray procedure examines the uterus and fallopian tubes, offering insights into structural issues.
• Laparoscopy: A surgical procedure to identify and treat conditions like endometriosis or pelvic adhesions. A small camera is inserted through a tiny incision to provide detailed views of reproductive organs.
• Transvaginal Ultrasound: Detects ovarian cysts, fibroids, and other uterine abnormalities.

For Men:

• Semen Analysis: Evaluates sperm count, motility, morphology, and overall health. This test is often the first diagnostic step for male infertility.
• Scrotal Ultrasound: Identifies varicoceles, blockages, or other structural issues in the male reproductive system.
• Testicular Biopsy: In cases of extremely low sperm count, this procedure assesses sperm production or potential testicular problems.

For Both:

• Genetic Testing: Identifies inherited conditions that could affect fertility or the health of future children. This testing is particularly valuable for couples experiencing recurrent pregnancy loss or unexplained infertility.

Advances in technology have made at-home testing a convenient first step. While these tests cannot replace professional diagnostics, they can provide valuable initial insights.

For Women:

• Ovulation Prediction Kits: Detect surges in luteinizing hormone (LH), indicating the most fertile days of the menstrual cycle.
• Hormone Testing Kits: At-home kits measure levels of hormones like FSH or AMH through blood or saliva samples. These tests can offer a snapshot of ovarian reserve and cycle health.
• Cycle Tracking Apps and Devices: These tools monitor menstrual cycle patterns and ovulation timing, often integrating with wearable devices for enhanced accuracy.

For Men:

• Semen Analysis Kits: Provide basic information about sperm count and motility. While not as detailed as lab-based tests, they can indicate whether further testing is needed.

For Both:

• Genetic Carrier Screening: Some at-home kits screen for genetic conditions that may affect fertility or pregnancy. These tests typically require a saliva or cheek swab sample.

Knowing which questions to ask can help you navigate the diagnostic process more effectively. Consider discussing the following with your healthcare provider:

• What specific tests do you recommend based on medical history?
• What do I need to do to prepare for these tests?
• What are the potential risks or discomforts of the recommended procedures?
• How long will it take to receive results, and what will they tell us?
• Are there lifestyle changes we should consider to improve fertility health?
• If I’m pursuing treatment using donor egg or sperm, what diagnostic testing has already been done?