Sun Jan 07 / Dr. Abrar Al-Shaer, PhD, RD

5 Overlooked Lab Tests for Fertility & Pregnancy

Discover five crucial but often overlooked lab tests that can uncover hidden causes of fertility challenges and support healthy pregnancy outcomes.

Medical laboratory testing equipment and samples, representing comprehensive fertility and pregnancy lab work

Beyond Basic Fertility Testing: 5 Crucial Labs You Might Be Missing

If you’re trying to conceive, you’ve likely heard about standard fertility tests that measure hormone levels and reproductive function. However, several other lab tests can provide crucial insights into underlying causes of subfertility. Here are five often-overlooked tests that can make a significant difference in your fertility journey.

1. MTHFR Genetic Testing

Understanding the MTHFR Mutation

MTHFR (methylenetetrahydrofolate reductase) is an enzyme that plays a vital role in converting folate into its active form (methylfolate), which is essential for DNA production and red blood cell formation.

MTHFR mutations can impact fertility in both men and women:

  • Women: Increased risk of miscarriage and pregnancy complications
  • Men: Potential for low sperm count and motility

Approximately 30-40% of the population carries at least one MTHFR mutation, with higher prevalence among Hispanic individuals.

Key Mutations to Test

The two primary mutation locations are A1298C and C677T. The C677T mutation carries the highest risk for fertility complications. If you inherit CT or TT variants for C677T, your ability to process folate may be 35-90% less efficient, leading to elevated homocysteine levels that contribute to fertility challenges.

Testing and Treatment

I recommend MTHFR genetic testing via saliva swab or blood draw for couples experiencing fertility challenges. If you carry the C677T mutation, the solution is straightforward: supplement with methylfolate (5-MTHF) instead of folic acid.

Look for prenatal vitamins containing:

  • Methylfolate
  • 5-MTHF
  • 5-methyltetrahydrofolate

The recommended dose is 800 mcg of methylfolate—avoid exceeding 1000 mcg to prevent overdose risk.

2. Vitamin D Testing

Vitamin D functions as both a vitamin and hormone, playing crucial roles in calcium absorption and reproductive health for both partners.

Optimal range: 50-80 ng/mL of 25-hydroxy (25-OH) vitamin D

Fertility benefits:

  • Men: Improves sperm quality and quantity
  • Women: Enhances ovarian function and egg quality

While sunlight and fatty fish provide vitamin D, supplementation with 2000 IUs daily is generally safe and often necessary. Always consult your healthcare provider before starting supplementation.

3. Ferritin (Iron Storage) Testing

Ferritin measures your body’s iron stores, which is particularly important during pregnancy preparation.

Optimal range: 50-100 mcg/L

Low ferritin levels can lead to:

  • Irregular periods and conception difficulties in women
  • Poor sperm quality in men
  • Reduced oxygen delivery to reproductive organs

Strategies to maintain healthy ferritin levels:

  • Iron-rich foods (leafy greens, lean meat, nuts)
  • Cast-iron cookware with lemon juice to boost absorption
  • Gentle iron supplements like iron bisglycinate if needed

Vegetarian and vegan individuals should particularly monitor their iron status and consider supplementation.

4. Comprehensive Thyroid Testing

Thyroid’s Role in Fertility

Thyroid hormones regulate metabolism and ovulation. Insufficient thyroid hormone can prevent ovulation and affect egg quality.

Essential Thyroid Markers

A comprehensive thyroid panel should include:

  • Thyroid Stimulating Hormone (TSH)
  • Free T4 and Free T3 (active hormone forms)
  • Anti-TPO and Anti-Tg antibodies
  • Reverse T3

Optimal TSH for fertility: Below 2.5 mU/L for miscarriage prevention

Understanding Your Results

Even with normal TSH and thyroid hormones, elevated antibodies indicate increased risk for developing thyroid issues during pregnancy or postpartum. This knowledge allows for proactive monitoring and management.

Important: If thyroid hormones are abnormal, follow your doctor’s medication recommendations rather than relying solely on herbal alternatives.

5. Celiac Genetics and Antibodies

Celiac Disease and Fertility

Celiac disease, an autoimmune disorder triggered by gluten, can cause:

  • Irregular periods and conception difficulties
  • Recurrent miscarriages
  • Nutritional deficiencies affecting fertility
  • Poor sperm quality in men

Comprehensive Celiac Testing

Genetic testing reveals if you carry celiac risk genes Antibody testing indicates if the disease is active

Crucial testing note: You must be consuming gluten for antibody tests to be accurate.

Management Strategy

If diagnosed with celiac disease, strict gluten-free adherence is essential. For gene carriers without active disease, options include preventative gluten-free diet or annual antibody monitoring.

Taking a Comprehensive Approach

These five tests provide a more complete picture of your fertility health, helping identify underlying issues that standard testing might miss. By addressing these factors proactively, you can optimize your fertility journey and pregnancy outcomes.

Remember to work with healthcare providers who understand the importance of comprehensive testing and can help you interpret results and develop appropriate treatment plans.