评估 NIPT-plus 的临床实用性并分析不良妊娠结局。

IF 2.1 3区 医学 Q2 OBSTETRICS & GYNECOLOGY Archives of Gynecology and Obstetrics Pub Date : 2024-11-06 DOI:10.1007/s00404-024-07811-9
Le Zhang, Bozhen Chang, Lixia Wang, Gulinazi Mijiti, Kuerlan Bahetibieke, Shuyuan Xue
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摘要

目的:评估NIPT-plus在检测胎儿非整倍体和CNV方面的性能,并分析不良妊娠结局的影响因素:方法:回顾性分析了8726名接受NIPT-plus胎儿筛查的孕妇,并将其分为低危(自愿接受检测)和高危(高龄、超声检查异常、血清学筛查异常或合并有适应症)两组。记录了产妇的基本信息、产前检查结果和妊娠结局。对NIPT-plus的各种染色体异常表现以及胎儿分型与不良妊娠结局之间的关联进行了评估:36例(0.4%)患者检测失败;检测出144例(1.65%)阳性病例,其中107例(74.31%)选择了侵入性检测,51例被证实为真阳性。低风险组和高风险组的总阳性预测值分别为 45.45% 和 48.65%,差异不显著。在随后的超声监测异常病例中,发现了两例假阴性病例,并通过羊膜穿刺术确诊了致病性 CNV,导致妊娠终止。胎儿分型与不良妊娠结局风险增加无关;然而,种族差异可能会影响妊娠结局:结论:NIPT-plus 技术的使用不再局限于高风险孕妇,它可能会产生假阳性结果。相关人员应认识到这一局限性。应向检测者解释检测结果的不确定性和潜在风险,以便其在知情的情况下做出决定,并尽量减少不必要的焦虑和担忧。在当地多种族环境中,种族可能会影响不良妊娠结局。
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Evaluation of the clinical utility of NIPT-plus and analysis of adverse pregnancy outcomes.

Purpose: To evaluate the performance of NIPT-plus in detecting fetal aneuploidies and CNVs and analyze the factors influencing adverse pregnancy outcomes.

Methods: The retrospectively analyzed 8726 pregnant women who underwent NIPT-plus for fetal screening were classified into low- (who tested voluntarily) and high-risk (women with advanced age, abnormal ultrasound, abnormal serological screening, or a combination of indications) groups. Basic maternal information, prenatal findings, and pregnancy outcomes were recorded. NIPT-plus performance was assessed for various chromosomal abnormalities and the association between the fetal fraction and adverse pregnancy outcomes.

Results: Thirty-six (0.4%) patients had failed tests; 144 (1.65%) positive cases were detected, of which, 107 (74.31%) opted for invasive testing, and 51 were verified as true positives. The total positive predictive value was 45.45% and 48.65% in the low- and high-risk groups, respectively, and the difference was not significant. Among the subsequent cases with abnormal ultrasound monitoring, two false-negative cases were identified, and pathogenic CNV diagnosis was confirmed through amniocentesis, resulting in pregnancy termination. Fetal fraction was not associated with an increased adverse pregnancy outcome risk; however, ethnic differences may affect pregnancy outcomes.

Conclusion: NIPT-plus technology use is no longer restricted to high-risk pregnant women, and it may produce false-positive results. The stakeholders should be aware of this limitation. The uncertainties and potential risks of the test results should be explained to the test takers to enable informed decision making and to minimize unnecessary anxiety and concerns. Ethnicity may influence adverse pregnancy outcomes in local multiracial settings.

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来源期刊
CiteScore
4.70
自引率
15.40%
发文量
493
审稿时长
1 months
期刊介绍: Founded in 1870 as "Archiv für Gynaekologie", Archives of Gynecology and Obstetrics has a long and outstanding tradition. Since 1922 the journal has been the Organ of the Deutsche Gesellschaft für Gynäkologie und Geburtshilfe. "The Archives of Gynecology and Obstetrics" is circulated in over 40 countries world wide and is indexed in "PubMed/Medline" and "Science Citation Index Expanded/Journal Citation Report". The journal publishes invited and submitted reviews; peer-reviewed original articles about clinical topics and basic research as well as news and views and guidelines and position statements from all sub-specialties in gynecology and obstetrics.
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