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Summary of Study on Infertility Genes
In recent years, there has been a growing identification of genes linked to male and female infertility. This has expanded the scope of genetic analysis beyond karyotypes and specific genes, allowing for the simultaneous analysis of numerous infertility genes.
Key Findings:
- Diagnostic activity over the past two years included 140 patients (63 women and 77 men).
- Targeted sequencing revealed causative variants in 17 patients, giving an overall diagnostic rate of 12.1%, with prevalence rates in females and males of 11% and 13%, respectively.
- Re-evaluation of the gene-disease relationship (GDR) resulted in changes in the categorization of five genes based on new patient data and variants in the study.
It is important to note that many infertility genes remain unidentified, highlighting the need for ongoing research in this area.
With the increasing role of genetics in reproductive medicine, there is a need to extend interventions to include other family members, alongside individual patients or couples. Fertility centers should consider establishing genetic counseling consultations and appropriate staffing to meet these evolving needs.
Trial registration number: Not applicable.
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