The Potential Role for Host Genetic Profiling in Screening for Chlamydia-Associated Tubal Factor Infertility (TFI)—New Perspectives

Thereupon, we review the main characteristics of the population undergoing fertility work-up and identify screening and diagnostic strategies for tubal factor infertility currently in place

Jelena Malogajski; Ivan Branković; Jolande A. Land; Pierre P. M. Thomas; Servaas A. Morré; Elena Ambrosino


Scholarcy highlights

  • Worldwide, 10–15% of couples trying to conceive suffer from infertility
  • A positive Chlamydia IgG antibody testing and low genetic risk profile would indicate that, the patient had a Chlamydial infection in the past, there is a considerable chance for the infection to have been cleared without complications, due to the presence of protective markers
  • When CAT is negative and genetic markers indicate high genetic risk, the risk for tubal factor infertility is considered intermediate, as TFI can be caused by bacterial sexually transmitted infections other than Chlamydia. In those cases in which the genetic marker test is simultaneously positive for the single nucleotide polymorphism that put the patient at high risk of developing TFI and for the SNPs recognized for their protective role, the decision-making will be more complex and will have to rely on additional clinical variables
  • One objective of an SNP-based host genetic assay would be to improve the accuracy of first line testing by combining a serologic and genetic approach, to more accurately determine the TFI risk and reduce the number of misdiagnoses
  • The test would lead to improved clinical decision-making in fertility clinics, a more efficient use of resources, and fewer expenses for the healthcare system
  • Carriership of SNPs that both increase and reduce the risk of TFI would lead to a “diagnostic grey zone,” making clinicians’ decision processes more complex and necessitating well-defined, robust algorithms to aid decision-making
  • When introducing a genome-based companion diagnostic in the routine fertility work-up, setting up continual education courses for residents and reproductive specialists in order to increase their familiarity with clinical genetics would be an important implementation step

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