Overview
- Infertility is defined as the failure to conceive, regardless of the cause, after 1 year of unprotected intercourse. This condition affects approximately 10-15% of reproductive-aged couples. Infertility can be caused by a female factor, male factor or environmental. The female etiology of infertility can be cervical, uterine, ovarian, tubal or peritoneal. The male factors that affect fertility include pretesticular, testicular or post–testicular.
- Environmental factors that affect fertility include excessive exercise, occupational, toxic substances, inadequate diet associated with extreme weight loss or gain as well as advanced age. In our current society, some women postpone childbearing until their 30s and beyond, so they tend to have more difficulty conceiving and increased risk of miscarriage. Clinically, it is a highly heterogeneous pathology with a complex etiology that includes environmental and genetic factors. It is estimated that nearly 50% of infertility cases are due to genetic defects.
- The Igenomix Infertility Precision Panel can be used to make a directed and accurate differential diagnosis of inability to conceive ultimately leading to a better management and achieve a healthy baby at home. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
Indication
The Igenomix Infertility Precision Panel is indicated for those patients with clinical suspicion of infertility presenting with the following manifestations:
- Inability to conceive after 1 year of unprotected intercourse
- Family history of infertility
- Recurrent miscarriages
- Family history of recurrent miscarriages
Clinical Utility
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team for an initial consultation, workup and assisted reproductive technologies (ART).
- Risk assessment of asymptomatic family members according to the mode of inheritance.
References
Timothy Jette, N., & Glass, R. (1972). Prognostic Value of the Postcoital Test. Fertility And Sterility, 23(1), 29-32. doi: 10.1016/s0015-0282(16)38705-2
Zorrilla, M., & Yatsenko, A. N. (2013). The Genetics of Infertility: Current Status of the Field. Current genetic medicine reports, 1(4), 10.1007/s40142-013-0027-1. https://doi.org/10.1007/s40142-013-0027-1
Venkatesh, T., Suresh, P. S., & Tsutsumi, R. (2014). New insights into the genetic basis of infertility. The application of clinical genetics, 7, 235–243. https://doi.org/10.2147/TACG.S40809
Cariati, F., D’Argenio, V., & Tomaiuolo, R. (2019). The evolving role of genetic tests in reproductive medicine. Journal Of Translational Medicine, 17(1). doi: 10.1186/s12967-019-2019-8
Krausz, C., Riera-Escamilla, A. Genetics of male infertility. Nat Rev Urol 15, 369–384 (2018). https://doi.org/10.1038/s41585-018-0003-3
Layman, L. (2002). Human gene mutations causing infertility. Journal Of Medical Genetics, 39(3), 153-161. doi: 10.1136/jmg.39.3.153
Patel, B., Parets, S., Akana, M., Kellogg, G., Jansen, M., Chang, C., Cai, Y., Fox, R., Niknazar, M., Shraga, R., Hunter, C., Pollock, A., Wisotzkey, R., Jaremko, M., Bisignano, A., & Puig, O. (2018). Comprehensive genetic testing for female and male infertility using next-generation sequencing. Journal of assisted reproduction and genetics, 35(8), 1489–1496. https://doi.org/10.1007/s10815-018-1204-7
