{"id":9063,"date":"2024-07-04T09:15:11","date_gmt":"2024-07-04T09:15:11","guid":{"rendered":"https:\/\/dev.sequentiabiotech.com\/publication\/maternicode-new-bioinformatic-pipeline-to-detect-fetal-aneuploidies-and-rearrangements-using-next-generation-sequencing\/"},"modified":"2026-02-25T12:07:51","modified_gmt":"2026-02-25T12:07:51","slug":"maternicode-new-bioinformatic-pipeline-to-detect-fetal-aneuploidies-and-rearrangements-using-next-generation-sequencing","status":"publish","type":"publication","link":"https:\/\/www.sequentiabiotech.com\/it\/publication\/maternicode-new-bioinformatic-pipeline-to-detect-fetal-aneuploidies-and-rearrangements-using-next-generation-sequencing\/","title":{"rendered":"MaterniCode: New Bioinformatic Pipeline to Detect Fetal Aneuploidies and Rearrangements Using Next-Generation Sequencing"},"content":{"rendered":"<p><strong>Authors:<\/strong> <span style=\"font-weight: 400;\"><span class=\"accordion-tabbed__tab-mobile accordion__closed\">Federico Gabrielli<i class=\"icon-mail_outline\" aria-hidden=\"true\"><\/i><span class=\"comma-separator\">,\u00a0<\/span><\/span><span class=\"accordion-tabbed__tab-mobile accordion__closed\">Filomena Tiziana Papa<span class=\"comma-separator\">,\u00a0<\/span><\/span><span class=\"accordion-tabbed__tab-mobile accordion__closed\">Fabio Di Pietro<span class=\"comma-separator\">,\u00a0<\/span><\/span><span class=\"accordion-tabbed__tab-mobile accordion__closed\">Andreu Paytuv\u00ed-Gallart<span class=\"comma-separator\">,\u00a0<\/span><\/span><span class=\"accordion-tabbed__tab-mobile accordion__closed\">Daniel Julian<span class=\"comma-separator\">,\u00a0<\/span><\/span><span class=\"accordion-tabbed__tab-mobile accordion__closed\">Walter Sanseverino<span class=\"comma-separator\">,\u00a0<\/span><\/span><span class=\"accordion-tabbed__tab-mobile accordion__closed\">Cinzia Alfonsi<\/span><\/span><span style=\"font-weight: 400;\">\u00a0<\/span><\/p>\n<p><strong>Publication:<\/strong> <span style=\"font-weight: 400;\">International Journal of Genomics<\/span><\/p>\n<p><strong>Published:<\/strong> June, 2024<\/p>\n<p><strong>Link: <\/strong><a href=\"https:\/\/doi.org\/10.1155\/2024\/8859058\">https:\/\/doi.org\/10.1155\/2024\/8859058<\/a><\/p>\n<p><strong>Abstract:<\/strong><\/p>\n<p><b>Objective:<\/b>\u00a0The present study is aimed at introducing and evaluating MaterniCode, a state-of-the-art bioinformatic pipeline for noninvasive prenatal testing (NIPT) that leverages the Ion Torrent semiconductor sequencing platform. The initiative strives to revolutionize prenatal diagnostics by offering a rapid and cost-effective method without sacrificing accuracy.<\/p>\n<p><b>Methods:<\/b>\u00a0Two distinct bioinformatic strategies were employed for fetal sex determination, one of which achieved 100% accuracy. We analyzed 1225 maternal blood samples for fetal aneuploidies, benchmarking against the industry standard Illumina VeriSeq\u2122 NIPT Solution v2. The capability of MaterniCode to detect and characterize complex chromosomal anomalies was also assessed.<\/p>\n<p><b>Results:<\/b>\u00a0MaterniCode achieved near-perfect accuracy in fetal sex determination through chromosome Y (chrY )\u2013specific gene analysis, whereas the alternative method, employing the ratio of high-quality mapped reads on chrY relative to all reads, delivered 100% accuracy. For fetal aneuploidy detection, both the integrated WisecondorX and NIPTeR algorithms demonstrated a 100% sensitivity and specificity rate, consistent with Illumina VeriSeq\u2122 NIPT Solution v2. The pipeline also successfully identified and precisely mapped significant chromosomal abnormalities, exemplified by a 2.4\u2009Mb deletion on chromosome 13 and a 3\u2009Mb duplication on chromosome 2.<\/p>\n<p><b>Conclusion:<\/b>\u00a0MaterniCode has proven to be an innovative and highly efficient tool in the domain of NIPT, demonstrating excellent sensitivity and specificity. Its robust capability to effectively detect a wide range of complex chromosomal aberrations, including rare and subtle variations, positions it as a promising and valuable addition to prenatal diagnostic technologies. This enhancement to diagnostic precision significantly aids clinicians in making informed decisions during pregnancy management.<\/p>\n","protected":false},"featured_media":9495,"parent":0,"template":"","meta":{"_acf_changed":false},"omics-area":[38],"application-field":[35,37],"solution":[],"publication-type":[49],"class_list":["post-9063","publication","type-publication","status-publish","has-post-thumbnail","hentry","omics-area-genomics","application-field-basic-research","application-field-health","publication-type-peer-reviewed-articles"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.9 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>MaterniCode: New Bioinformatic Pipeline to Detect Fetal Aneuploidies and Rearrangements Using Next-Generation Sequencing - Sequentia<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.sequentiabiotech.com\/it\/publication\/maternicode-new-bioinformatic-pipeline-to-detect-fetal-aneuploidies-and-rearrangements-using-next-generation-sequencing\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"MaterniCode: New Bioinformatic Pipeline to Detect Fetal Aneuploidies and Rearrangements Using Next-Generation Sequencing - Sequentia\" \/>\n<meta property=\"og:description\" content=\"Authors: Federico Gabrielli,\u00a0Filomena Tiziana Papa,\u00a0Fabio Di Pietro,\u00a0Andreu Paytuv\u00ed-Gallart,\u00a0Daniel Julian,\u00a0Walter Sanseverino,\u00a0Cinzia Alfonsi\u00a0 Publication: International Journal of Genomics Published: June, 2024 Link: https:\/\/doi.org\/10.1155\/2024\/8859058 Abstract: Objective:\u00a0The present study is aimed at introducing and evaluating MaterniCode, a state-of-the-art bioinformatic pipeline for noninvasive prenatal testing (NIPT) that leverages the Ion Torrent semiconductor sequencing platform. 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