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Going deeper with labs

Going deeper with labs · Step 5 of 5

Specialty tests to discuss with your provider

MTHFR, DNA fragmentation, microbiome, environmental

CEmerging evidence

MTHFR testing: The C677T homozygous variant reduces enzyme activity by roughly 70% and has been associated with recurrent loss (OR 1.62). Despite that, MTHFR genotyping is specifically not recommended for fertility or recurrent-loss workups: it does not change management, because anyone can take a prenatal containing methylfolate without knowing their genotype. Filia does not include methylation-pathway genetic testing in its initial launch catalog. The guidance above has not changed: it is a one-time result that rarely alters what anyone does, and it deserves proper counselling about what it means.

Sperm DNA fragmentation: DFI over 30% is associated with reduced pregnancy rates and increased miscarriage — even when standard semen analysis looks normal. Worth raising for unexplained infertility or recurrent loss, though assays and thresholds are not standardised between labs.

Vaginal and endometrial microbiome: Non-Lactobacillus-dominant profiles are associated with lower IVF implantation and pregnancy rates. This is an active research area rather than established care. Filia does not include stool microbiome profiling in its initial launch catalog. This testing is not recommended as a routine screen — it is most useful when you have a specific question rather than as a general sweep.

Chronic endometritis: CD138 immunohistochemistry on endometrial biopsy is the gold standard. Prevalence is 10–67% in women with unexplained infertility or RPL. Treatable with antibiotics.

Environmental toxins: Urinary BPA, phthalates, glyphosate and heavy metals can be measured, and the specialty testing page lists the Mosaic Diagnostics kits that can be ordered today. They show recent exposure rather than lifetime burden, and there are no established personal targets for most of them. High-pesticide produce was linked to 26% lower live birth in ART.

4-point salivary cortisol: Marketed as capturing stress-axis patterns a single morning serum cortisol misses, and elevated patterns have been associated with lower IVF pregnancy rates. Filia does not include saliva hormone profiles in its initial launch catalog. These profiles are not recommended as fertility testing — the results are highly variable day to day and there is no established fertility intervention keyed to them. Stress is worth addressing regardless of what a cortisol curve shows.

Note on ERA testing: The Endometrial Receptivity Analysis has not been validated in large RCTs. Multiple studies show no improvement in live birth rates. It is not recommended as a routine test.