德国无创产前检查临床经验:超过500例21、18、13三体和X单体高危病例分析

IF 0.7 Q4 OBSTETRICS & GYNECOLOGY

Current Obstetrics and Gynecology Reports Pub Date : 2021-01-01 DOI:10.15761/ogr.1000157

B. Eiben, H. Borth, N. Kutur, C. Courtis, Anna Teubert, S. Knippenberg, Thomas Winkler, R. Glaubitz

{"title":"德国无创产前检查临床经验:超过500例21、18、13三体和X单体高危病例分析","authors":"B. Eiben, H. Borth, N. Kutur, C. Courtis, Anna Teubert, S. Knippenberg, Thomas Winkler, R. Glaubitz","doi":"10.15761/ogr.1000157","DOIUrl":null,"url":null,"abstract":"Analysis of 545 NIPT high-risk cases with high risk for trisomy 21 (T21), 18 (T18), and 13 (T13), as well as monosomy X (MX) from routine NIPT testing in a single prenatal center in Germany. Analysis was performed using the VeriSeq NIPT Solution v2 (Illumina Inc., USA). The assessment of true vs false positive results were based on clinical outcome data. The average fetal fraction of 9.7% was within the expected range in T21 and MX but lower in T18 and T13. For all high-risk groups sensitivity and specificity was far above 99%. The positive predictive value (PPV) was highest at trisomy 21 with 94.1%, followed by trisomy 18 with 80.9%. For trisomy 13 and Monosomy X, the PPV was clearly lower at 60.5% and 65.6%, respectively. PPV was dependent on different indications and maternal age. We could show that statistical tools of the method like the log likelihood ratio (LLR) score and T-Statistics value are important to distinguish between (clinical) false positive and true positive NIPT results in trisomies. The relationship between results and quality scores is less significant for MX cases. The study shows that the Illumina VeriSeq v2 procedure is a highly reliable NIPT method with a low no call rate in the hands of experienced diagnostic laboratories.","PeriodicalId":44726,"journal":{"name":"Current Obstetrics and Gynecology Reports","volume":"09 1","pages":""},"PeriodicalIF":0.7000,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":"{\"title\":\"Clinical experience with noninvasive prenatal testing in Germany: Analysis of over 500 high-risk cases for trisomy 21, 18, 13 and monosomy X\",\"authors\":\"B. Eiben, H. Borth, N. Kutur, C. Courtis, Anna Teubert, S. Knippenberg, Thomas Winkler, R. Glaubitz\",\"doi\":\"10.15761/ogr.1000157\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Analysis of 545 NIPT high-risk cases with high risk for trisomy 21 (T21), 18 (T18), and 13 (T13), as well as monosomy X (MX) from routine NIPT testing in a single prenatal center in Germany. Analysis was performed using the VeriSeq NIPT Solution v2 (Illumina Inc., USA). The assessment of true vs false positive results were based on clinical outcome data. The average fetal fraction of 9.7% was within the expected range in T21 and MX but lower in T18 and T13. For all high-risk groups sensitivity and specificity was far above 99%. The positive predictive value (PPV) was highest at trisomy 21 with 94.1%, followed by trisomy 18 with 80.9%. For trisomy 13 and Monosomy X, the PPV was clearly lower at 60.5% and 65.6%, respectively. PPV was dependent on different indications and maternal age. We could show that statistical tools of the method like the log likelihood ratio (LLR) score and T-Statistics value are important to distinguish between (clinical) false positive and true positive NIPT results in trisomies. The relationship between results and quality scores is less significant for MX cases. The study shows that the Illumina VeriSeq v2 procedure is a highly reliable NIPT method with a low no call rate in the hands of experienced diagnostic laboratories.\",\"PeriodicalId\":44726,\"journal\":{\"name\":\"Current Obstetrics and Gynecology Reports\",\"volume\":\"09 1\",\"pages\":\"\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2021-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Current Obstetrics and Gynecology Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15761/ogr.1000157\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Obstetrics and Gynecology Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15761/ogr.1000157","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}

引用次数: 2

摘要

545例NIPT高危患者(21三体(T21)、18三体(T18)、13三体(T13)及X单体(MX))在德国单一产前中心进行NIPT常规检测分析使用VeriSeq NIPT Solution v2 (Illumina Inc.， USA)进行分析。真假阳性结果的评估基于临床结果数据。T21和MX的平均胎分数为9.7%，在预期范围内，但T18和T13较低。对于所有高危人群，敏感性和特异性均远高于99%。21三体阳性预测值最高，为94.1%，18三体次之，为80.9%。对于13三体和X单体，PPV明显较低，分别为60.5%和65.6%。PPV依赖于不同的适应症和产妇年龄。我们可以证明，该方法的统计工具，如对数似然比(LLR)评分和T-Statistics值，对于区分(临床)假阳性和真阳性NIPT结果非常重要。在MX病例中，结果与质量评分之间的关系不太显著。研究表明，在经验丰富的诊断实验室中，Illumina VeriSeq v2程序是一种高度可靠的NIPT方法，无呼叫率低。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Clinical experience with noninvasive prenatal testing in Germany: Analysis of over 500 high-risk cases for trisomy 21, 18, 13 and monosomy X

Analysis of 545 NIPT high-risk cases with high risk for trisomy 21 (T21), 18 (T18), and 13 (T13), as well as monosomy X (MX) from routine NIPT testing in a single prenatal center in Germany. Analysis was performed using the VeriSeq NIPT Solution v2 (Illumina Inc., USA). The assessment of true vs false positive results were based on clinical outcome data. The average fetal fraction of 9.7% was within the expected range in T21 and MX but lower in T18 and T13. For all high-risk groups sensitivity and specificity was far above 99%. The positive predictive value (PPV) was highest at trisomy 21 with 94.1%, followed by trisomy 18 with 80.9%. For trisomy 13 and Monosomy X, the PPV was clearly lower at 60.5% and 65.6%, respectively. PPV was dependent on different indications and maternal age. We could show that statistical tools of the method like the log likelihood ratio (LLR) score and T-Statistics value are important to distinguish between (clinical) false positive and true positive NIPT results in trisomies. The relationship between results and quality scores is less significant for MX cases. The study shows that the Illumina VeriSeq v2 procedure is a highly reliable NIPT method with a low no call rate in the hands of experienced diagnostic laboratories.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Current Obstetrics and Gynecology Reports OBSTETRICS & GYNECOLOGY-

自引率

0.00%

发文量

期刊介绍： This journal aims to provide expert review articles on significant recent developments in obstetrics and gynecology. Presented in clear, insightful, balanced contributions by international experts, the journal intends to serve all those involved in the diagnosis, treatment, management, and prevention of conditions that compromise the health of women. We accomplish this aim by appointing international authorities to serve as Section Editors in key subject areas, such as endometriosis, infertility, menopause, prenatal medicine, and vulval and cervical lesions. Section Editors select topics for which leading experts contribute comprehensive review articles that emphasize new developments and recently published papers of major importance, highlighted by annotated reference lists. An Editorial Board of nearly 20 international members reviews the annual table of contents, suggests articles of special importance to their country/region, and ensures that topics include emerging research. Commentaries from well-known figures in the field are also provided.