Introduction: New technology and diagnostics are needed for better assessment of male infertility. The mainstay of male factor infertility diagnosis is the standard semen analysis (sperm concentration, motility, and morphology) has changed very little over the last several decades and has been shown to have limited value. Here we complete a prospective analysis of men seeking fertility care using a newly available epigenetic sperm quality test (SpermQT).
Methods: SpermQT was run on 50 sperm samples from consented patients at a single academic center. The SpermQT was developed and validated by a university associated bioscience company and is now available commercially. SpermQT looks specifically at DNA methylation sperm patterns at 10,000 promoters and has shown an 84% PPV for identifying men at high risk for no live birth from IUI or natural conception, and needing IVF with ICSI. Semen parameters, hormones, medications, health history, fertility treatments, and outcomes were analyzed for each sample, with 30 of the 50 samples having pregnancy data to date. Associations between the SpermQT results and the provided data were examined using standard statistical methods.
Results: Analysis was completed on all samples that passed the quality control measures of the SpermQT. In the 50 samples analyzed, 22% had the SpermQT high-risk result (N=11). Of the 22% with a high-risk result, 73% of the men had normal semen parameters (concentration and motility). There was no statistically significant difference between the high-risk and low-risk between chronological ages, epigenetic sperm ages, % motility, smoking status, alcohol consumption, and BMI. However, for concentration the high-risk group had a statistically significant higher sperm concentration compared to the low-risk group (p=0.007) attesting to the unique quality of the epigenetic testing. Pregnancy outcomes were known for 30 out of the 50 patients, with 7% (N=2) achieving pregnancy to date. 100% of the pregnancies were from men with a low-risk result, and no man with a high-risk result has yet established a pregnancy.
Conclusions: Epigenetics is a growing field of scientific interest that is only starting to have an impact on the field of male infertility. Here we show the epigenetic sperm quality high-risk result is irrespective of semen quality. With continued collection of data for pregnancy outcomes we can further assess its utility in clinical care. The uniqueness of epigenetics is that it can be modified with lifestyle, which is a feature that can be leveraged in future research and has potential for the treatment of patients.
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