Comprehensive genetic testing for female and male infertility using next-generation sequencing

Journal of Assisted Reproduction and Genetics
Bonny PatelOscar Puig

Abstract

To develop a comprehensive genetic test for female and male infertility in support of medical decisions during assisted reproductive technology (ART) protocols. We 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. The 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. A single, comprehensive, NGS panel can simplify the or...Continue Reading

References

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Citations

Jul 29, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Naif AlhathalFowzan S Alkuraya
Dec 20, 2019·Current Sexual Health Reports·Samantha L P Schilit
Jul 25, 2020·Scandinavian Journal of Clinical and Laboratory Investigation·Greg KelloggValur Emilsson
Apr 4, 2020·Journal of Assisted Reproduction and Genetics·Maria Santa RoccaAlberto Ferlin
Sep 30, 2020·Postgraduate Medicine·David Miller, Josip Vukina
Oct 30, 2020·Andrologia·Mahzad NasirshalalPegah Ghandil
Apr 29, 2019·Fertility and Sterility·Nannan ThirumavalavanDolores J Lamb
Jul 3, 2020·The Journal of Molecular Diagnostics : JMD·Kelsey J McIntyreHeather Mason-Suares

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Datasets Mentioned

BETA
NA18337
NA21681

Methods Mentioned

BETA
Assay
PCR
electrophoresis

Software Mentioned

Elements
DRAGEN
DNAsimple

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