Enhancing Non-Invasive Prenatal Testing: A Novel Approach to Improve 45,X Prediction Accuracy.

IF 2.7 2区医学 Q2 GENETICS & HEREDITY Prenatal Diagnosis Pub Date : 2025-02-15 DOI:10.1002/pd.6756

Xiaoying Lin, Cheng Huang, Li Chen, Bole Du, Yulai Guo, Mi Zeng, Sheng Li, Weicheng Xia, Jiaxue Wei

{"title":"Enhancing Non-Invasive Prenatal Testing: A Novel Approach to Improve 45,X Prediction Accuracy.","authors":"Xiaoying Lin, Cheng Huang, Li Chen, Bole Du, Yulai Guo, Mi Zeng, Sheng Li, Weicheng Xia, Jiaxue Wei","doi":"10.1002/pd.6756","DOIUrl":null,"url":null,"abstract":"Objective: Traditional non-invasive prenatal testing (NIPT) for sex chromosome aneuploidies (SCAs) has a higher risk of false positives, particularly for 45,X. This study introduces an innovative NIPT analysis pipeline to minimize false positives in 45,X screening.Methods: We included 39 cases from the NIPT records of 15,882 pregnancies, including 20 with 45,X and 19 controls, and performed standard NIPT and size-selection NIPT tests. Based on the two NIPT results, the Zs-score was used to determine aneuploidy status: > 3 indicated 45,X, and -3 to 3 suggested a negative result. We analyzed the change in the positive predictive value (PPV) of NIPT for 45,X.Results: By integrating data from two NIPT experiments and monitoring sex chromosome variations, the Zs of the control group ranged from -3 to 3, indicating no 45,X. In the NIPT-45,X group, 9 out of 20 cases had Zs > 3, whereas the remaining 11 cases had Zs between -3 and 3. The PPV of NIPT for 45,X improved from 25.00% (5/20) to 55.56% (5/9), and 73.33% (11/15) of the initial false positives were corrected by our method.Conclusion: Our advanced analysis process significantly improved the PPV of NIPT for 45,X and reduced the incidence of false positives.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7000,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Prenatal Diagnosis","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/pd.6756","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

Abstract

Objective: Traditional non-invasive prenatal testing (NIPT) for sex chromosome aneuploidies (SCAs) has a higher risk of false positives, particularly for 45,X. This study introduces an innovative NIPT analysis pipeline to minimize false positives in 45,X screening.

Methods: We included 39 cases from the NIPT records of 15,882 pregnancies, including 20 with 45,X and 19 controls, and performed standard NIPT and size-selection NIPT tests. Based on the two NIPT results, the Z_s-score was used to determine aneuploidy status: > 3 indicated 45,X, and -3 to 3 suggested a negative result. We analyzed the change in the positive predictive value (PPV) of NIPT for 45,X.

Results: By integrating data from two NIPT experiments and monitoring sex chromosome variations, the Z_s of the control group ranged from -3 to 3, indicating no 45,X. In the NIPT-45,X group, 9 out of 20 cases had Z_s > 3, whereas the remaining 11 cases had Z_s between -3 and 3. The PPV of NIPT for 45,X improved from 25.00% (5/20) to 55.56% (5/9), and 73.33% (11/15) of the initial false positives were corrected by our method.

Conclusion: Our advanced analysis process significantly improved the PPV of NIPT for 45,X and reduced the incidence of false positives.

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

求助全文

约1分钟内获得全文去求助

来源期刊

Prenatal Diagnosis 医学-妇产科学

CiteScore

5.80

自引率

13.30%

发文量

204

审稿时长

2 months

期刊介绍： Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling