ArticleJournal of assisted reproduction and genetics2018
Comprehensive genetic testing for female and male infertility using next-generation sequencing.
Article in Journal of assisted reproduction and genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 2 of them syntheses that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
28 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure.Reproduction (Cambridge, England) · 2022Pooled it
- A systematic review and standardized clinical validity assessment of male infertility genes.Human reproduction (Oxford, England) · 2019Pooled it
- Advanced maternal age and assisted reproductive technologies: outcomes, genomics, and real-world evidence.Frontiers in reproductive health · 2026Review
- Genetic and functional analysis reveals novel mutations in meiotic genes underlying non-obstructive azoospermia.Journal of assisted reproduction and genetics · 2025Article
- How exome sequencing improves the diagnostics and management of men with non-syndromic infertility.Andrology · 2025Review
- Evaluation of Risk Factors and a Gene Panel as a Tool for Unexplained Infertility Diagnosis by Next-Generation Sequencing.Medicina (Kaunas, Lithuania) · 2025Review
- Next-Generation Sequencing Infertility Panel in Turkey: First Results.Balkan journal of medical genetics : BJMG · 2024Article
- Novel Genes of the Male Reproductive System: Potential Roles in Male Reproduction and as Non-hormonal Male Contraceptive Targets.Molecular reproduction and development · 2024Review
- Evaluation of an Updated Gene Panel as a Diagnostic Tool for Both Male and Female Infertility.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
- Genomic aspects in reproductive medicine.Clinical and experimental reproductive medicine · 2024Article
- Testis-specific serine kinase 3 is required for sperm morphogenesis and male fertility.Andrology · 2023Article
- The infertile individual analysis based on whole-exome sequencing in chinese multi-ethnic groups.Genes & genomics · 2023Article
- Globozoospermia: A Case Report and Systematic Review of Literature.The world journal of men's health · 2023Article
- Genetic correlation between female infertility and mental health and lifestyle factors: A linkage disequilibrium score regression study.Health science reports · 2022Article
- Technical Performance of a 430-Gene Preventative Genomics Assay to Identify Multiple Variant Types Associated with Adult-Onset Monogenic Conditions, Susceptibility Loci, and Pharmacogenetic Insights.Journal of personalized medicine · 2022Article
- Female infertility and diet, is there a role for a personalized nutritional approach in assisted reproductive technologies? A Narrative Review.Frontiers in nutrition · 2022Review
- Onco-fertility and personalized testing for potential for loss of ovarian reserve in patients undergoing chemotherapy: proposed next steps for development of genetic testing to predict changes in ovarian reserve.Fertility research and practice · 2021Review
- Review
- Y-microdeletions: a review of the genetic basis for this common cause of male infertility.Translational andrology and urology · 2021Review
- Genetic testing for men with infertility: techniques and indications.Translational andrology and urology · 2021Review
Corrections and comments
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Authors and funding
16 authors.
Funding
Abstract
purposeTo develop a comprehensive genetic test for female and male infertility in support of medical decisions during assisted reproductive technology (ART) protocols.
methodsWe developed a next-generation sequencing (NGS) gene panel consisting of 87 genes including promoters, 5' and 3' untranslated regions, exons, and selected introns. In addition, sex chromosome aneuploidies and Y chromosome microdeletions were analyzed concomitantly using the same panel.
resultsThe NGS panel was analytically validated by retrospective analysis of 118 genomic DNA samples with known variants in loci representative of female and male infertility. Our results showed analytical accuracy of > 99%, with > 98% sensitivity for single-nucleotide variants (SNVs) and > 91% sensitivity for insertions/deletions (indels). Clinical sensitivity was assessed with samples containing variants representative of male and female infertility, and it was 100% for SNVs/indels, CFTR IVS8-5T variants, sex chromosome aneuploidies, and copy number variants (CNVs) and > 93% for Y chromosome microdeletions. Cost analysis shows potential savings when comparing this single NGS assay with the standard approach, which includes multiple assays.
conclusionsA single, comprehensive, NGS panel can simplify the ordering process for healthcare providers, reduce turnaround time, and lower the overall cost of testing for genetic assessment of infertility in females and males, while maintaining accuracy.
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Registered trials
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