The Assessment of Methods for Preimplantation Genetic Testing for Aneuploidies (PGT-A) Using a Universal Parameter: Implications for Costs and Mosaicism Detection

The Assessment of Methods for Preimplantation Genetic Testing for Aneuploidies (PGT-A) Using a Universal Parameter: Implications for Costs and Mosaicism Detection | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Help Center Sign In Submit a Preprint Cite Share Download PDF Research Article The Assessment of Methods for Preimplantation Genetic Testing for Aneuploidies (PGT-A) Using a Universal Parameter: Implications for Costs and Mosaicism Detection Alexander Belyaev, Maria Tofilo, Sergey Popov, Ilya Mazunin, Dmitry Fomin This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-2813870/v2 This work is licensed under a CC BY 4.0 License Status: Posted Version 2 posted You are reading this latest preprint version Show more versions Abstract Preimplantation genetic testing for aneuploidies (PGT-A) is used to increase live birth rates following in vitro fertilization. The assessment of different PGT-A methods to date has relied on non-universal parameters, e.g., sensitivity and specificity, that are individually stipulated for each study and typically performed using arbitrarily selected cell lines. Here we present an alternative approach that is based on an assessment of the median noise in a large dataset of routine clinical samples. Raw sequencing data obtained during PGT-A testing of 973 trophectoderm biopsies was used for comparison of two methods: VeriSeq PGS (Illumina) and AB-PGT (AB Vector). Three times less median noise was a feature of the AB-PGT method, thereby allowing the number of multiplexed samples per sequencing run to be increased from 24 with VeriSeq PGS to 72 with AB-PGT, thus effectively reducing the price per sample without compromising data quality. The improvement is attributed to a novel SuperDOP whole genome amplification technology combined with a simplified PGT-A protocol. We show that the median noise level associated with a large dataset of biopsies is a simple, universal metric for the assessment of PGT-A methods, which has implications for other screening methods, the detection of mosaicisms, and the improvement of fertility clinics’ practices. Biological sciences/Biotechnology Biological sciences/Genetics Health sciences/Molecular medicine Physical sciences/Mathematics and computing PGT-A mosaicism IVF cost trophectoderm biopsy CNV WGA Full Text Additional Declarations Competing interest reported. A.B. declares that he holds shares and is an employee of AB Vector, LLC that produces the PGT-A kit described in the manuscript. He does not have any other unpaid roles or relationships that might have a bearing on the publication process. M.F., S.P., I.M. and D.F. declare no conflict of interest. Cite Share Download PDF Status: Posted Version 2 posted You are reading this latest preprint version Show more versions Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-2813870","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Research Article","associatedPublications":[],"authors":[{"id":192014555,"identity":"a618ef7e-5ae2-4bb6-bcff-e7cdc09f2cbd","order_by":0,"name":"Alexander Belyaev","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAAx0lEQVRIiWNgGAWjYDACdgYGZoYKhgQStDCD0BmwFsYG4rUwtpGihb+Z+Zh04Ty7PIPjzc8ffNzDIM8vdgC/FonDbMnGM7clFxucOWbYOOMZg+HM2QkErDnMY/iYdxtz4swZOYzNPAcYEgxuE9Aif5j/w2HeOfWJM+e/IVKLwWEexse8DYcT+yV4iNRieJjN2HjGsePF/DxphjNnHJAg7Be5483PpAtqqvPY2A8/+PDhgI08vzQBLehAgjTlo2AUjIJRMAqwAwDVFEEN7r2ZagAAAABJRU5ErkJggg==","orcid":"","institution":"AB Vector, LLC","correspondingAuthor":true,"submittingAuthor":false,"prefix":"","firstName":"Alexander","middleName":"","lastName":"Belyaev","suffix":""},{"id":192014556,"identity":"4031ed42-b464-427f-9e80-0acbaf41c857","order_by":1,"name":"Maria Tofilo","email":"","orcid":"","institution":"Medical Genomics Laboratory","correspondingAuthor":false,"submittingAuthor":false,"prefix":"","firstName":"Maria","middleName":"","lastName":"Tofilo","suffix":""},{"id":192014557,"identity":"dde62473-3d5c-4832-8a3d-4f1bbf3811d2","order_by":2,"name":"Sergey Popov","email":"","orcid":"","institution":"Medical Genomics Laboratory","correspondingAuthor":false,"submittingAuthor":false,"prefix":"","firstName":"Sergey","middleName":"","lastName":"Popov","suffix":""},{"id":192014558,"identity":"f918f20e-55ee-46d3-98b2-f496fbab6bd4","order_by":3,"name":"Ilya Mazunin","email":"","orcid":"","institution":"Medical Genomics Laboratory","correspondingAuthor":false,"submittingAuthor":false,"prefix":"","firstName":"Ilya","middleName":"","lastName":"Mazunin","suffix":""},{"id":192014559,"identity":"bff00e83-a8b9-479a-ab61-b8f14d412da4","order_by":4,"name":"Dmitry Fomin","email":"","orcid":"","institution":"Fomin Clinics","correspondingAuthor":false,"submittingAuthor":false,"prefix":"","firstName":"Dmitry","middleName":"","lastName":"Fomin","suffix":""}],"badges":[],"createdAt":"2023-04-13 16:29:27","currentVersionCode":2,"declarations":{"humanSubjects":false,"vertebrateSubjects":false,"conflictsOfInterestStatement":true,"humanSubjectEthicalGuidelines":false,"humanSubjectConsent":false,"humanSubjectClinicalTrial":false,"humanSubjectCaseReport":false,"vertebrateSubjectEthicalGuidelines":false,"coiExplicitlySet":false},"doi":"10.21203/rs.3.rs-2813870/v2","doiUrl":"https://doi.org/10.21203/rs.3.rs-2813870/v2","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":51016402,"identity":"d5bd34a3-40cf-448d-837c-f228238328fd","added_by":"auto","created_at":"2024-02-12 19:04:07","extension":"pdf","order_by":1,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":941074,"visible":true,"origin":"","legend":"","description":"","filename":"18ResearchSquaresubm2224v2.pdf","url":"https://assets-eu.researchsquare.com/files/rs-2813870/v2_covered_f3298a38-e995-4ad9-b6e1-3645c4088c17.pdf"}],"financialInterests":"\u003cp\u003eCompeting interest reported. 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