{"id":1840,"date":"2023-04-04T12:38:44","date_gmt":"2023-04-04T12:38:44","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1840"},"modified":"2026-02-23T00:16:33","modified_gmt":"2026-02-23T00:16:33","slug":"validation-and-depth-evaluation-of-low-pass-genome-sequencing-in-prenatal-diagnosis-using-387-amniotic-fluid-samples","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/04\/04\/validation-and-depth-evaluation-of-low-pass-genome-sequencing-in-prenatal-diagnosis-using-387-amniotic-fluid-samples\/","title":{"rendered":"Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples (Contributed by Prof. Minyue Dong)"},"content":{"rendered":"<p>Low-pass genome sequencing (LP GS) has been widely used in CNV detection andis considered as an alternative to chromosomal microarray analysis. However, application of LP GS as a first-line prenatal diagnostic test is not ready.The increase in sequencing depth will improve detection sensitivity, followed by the increase for cost. This could greatly block the successful application of this test. In this work, we found that LP GS and CMA had the same diagnostic yield in real clinical setting. Considering detection sensitivity, cost and interpretation workload, 25 M uniquely aligned high-quality reads were recommended for detecting most aneuploidies and microdeletions\/microduplications. Our study provided data quality standards and thresholds of sequencing depth for centers conducting LP GS in prenatal diagnosis in thefuture. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2023\/04\/02\/jmg-2022-109112\">https:\/\/jmg.bmj.com\/content\/early\/2023\/04\/02\/jmg-2022-109112<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/04\/04\/validation-and-depth-evaluation-of-low-pass-genome-sequencing-in-prenatal-diagnosis-using-387-amniotic-fluid-samples\/picture1-3\/\" rel=\"attachment wp-att-1841\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1841\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/04\/Picture1-300x200.jpg\" alt=\"\" width=\"300\" height=\"200\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/04\/Picture1-300x200.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/04\/Picture1-1024x683.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/04\/Picture1-768x513.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/04\/Picture1-640x427.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/04\/Picture1.jpg 1269w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>Prof. Minyue Dong with some co-authors at Women\u2019s Hospital, School of Medicine, Zhejiang University (Hangzhou, Zhejiang, China)<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Low-pass genome sequencing (LP GS) has been widely used in CNV detection andis considered as an alternative to chromosomal microarray analysis. However, application of LP GS as a first-line prenatal diagnostic test is not ready.The increase in sequencing depth will improve detection sensitivity, followed by the increase for cost. This could greatly block the successful [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/04\/04\/validation-and-depth-evaluation-of-low-pass-genome-sequencing-in-prenatal-diagnosis-using-387-amniotic-fluid-samples\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1840","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples (Contributed by Prof. Minyue Dong) - JMG Contact blog<\/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:\/\/blogs.bmj.com\/jmg\/2023\/04\/04\/validation-and-depth-evaluation-of-low-pass-genome-sequencing-in-prenatal-diagnosis-using-387-amniotic-fluid-samples\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples (Contributed by Prof. Minyue Dong) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Low-pass genome sequencing (LP GS) has been widely used in CNV detection andis considered as an alternative to chromosomal microarray analysis. However, application of LP GS as a first-line prenatal diagnostic test is not ready.The increase in sequencing depth will improve detection sensitivity, followed by the increase for cost. 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