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孕中期早期与孕中期晚期详细扫描相比胎儿异常的检出率:对孕早期超声检查的可能影响。

Detection Rate of Fetal Anomalies in Early Mid-Trimester Compared to Late Mid-Trimester Detailed Scans: Possible Implications for First-Trimester Sonography.

作者信息

Yehudit Zangi, Rachel Michaelson-Cohen, Ari Weiss, Ori Shen, Eyal Mazaki, Yitzhak Sela Hen

机构信息

Department of Obstetrics & Gynecology, Shaare Zedek Medical Center, Faculty of Medicine, Hebrew University School of Medicine, Jerusalem 9112102, Israel.

Medical Genetics Unit, Shaare Zedek Medical Center, Faculty of Medicine, Hebrew University School of Medicine, Jerusalem 9112102, Israel.

出版信息

J Clin Med. 2024 Sep 27;13(19):5750. doi: 10.3390/jcm13195750.

Abstract

: A late mid-trimester fetal organ scan (lMTS) is recommended between 18 and 22 weeks of pregnancy. Evidence has been accumulating on the effectiveness of first-trimester anatomy scans. Early mid-trimester fetal scans (eMTSs; 14-17 weeks) may have the advantage of visualization of most organs, hence allowing earlier genetic assessment and decision making. Our aim is to examine the effectiveness of eMTSs in identifying fetal anomalies compared to lMTSs. : A retrospective study was conducted based on data from the multidisciplinary prenatal diagnosis clinic in a tertiary center. During the study period (2011-2021), an out-of-pocket eMTS in a community setting was offered routinely to the general population. Women who had previously undergone an eMTS and were later assessed due to a fetal anomaly in our clinic were included in the study. The cohort was divided into two groups according to whether the anomaly had been detected during the eMTS. We then compared the groups for factors that may be associated with anomaly detection in eMTSs. We used t-tests and chi-square tests, for quantitative and qualitative variables, respectively, to determine variables related to eMTS anomaly detection, and logistic regression for multivariate analysis. : Of 1525 women assessed in our multidisciplinary clinic, 340 were included in the study. The anomaly detection rate of the eMTS compared to the lMTS was 59.1% The eMTS detection rates for specific organ systems were as follows: skeletal, 57%; cardiac, 52%; congenital anomalies of the kidneys and urinary tract (CAKUT), 44%; central nervous system, 32.4%; chest, 33%; and abdominal, 28%. In multivariate analysis, abnormal first-trimester screening (aOR 3.2; 95%CI 1.26-8.08) and multiple anomalies (aOR 1.86; 95%CI 1.02-3.37) were found to be associated with eMTS anomaly detection. : The eMTS detection rate was nearly 60% and was most accurate in detecting skeletal, cardiac, and CAKUT anomalies. Since the eMTS was community-based, this rate likely reflects a "real-world" scenario. Our findings support consideration of performing an eMTS or first-trimester scan routinely for earlier diagnosis and decision making, as an adjunctive to lMTSs. Future studies will examine the cost-effectiveness of early scans.

摘要

建议在妊娠18至22周之间进行孕中期晚期胎儿器官扫描(lMTS)。关于孕早期解剖扫描有效性的证据一直在积累。孕中期早期胎儿扫描(eMTS;14 - 17周)可能具有可视化大多数器官的优势,从而能够更早地进行基因评估和决策。我们的目的是研究与lMTS相比,eMTS在识别胎儿异常方面的有效性。

基于三级中心多学科产前诊断诊所的数据进行了一项回顾性研究。在研究期间(2011 - 2021年),社区环境中的自费eMTS被常规提供给普通人群。之前接受过eMTS且后来因胎儿异常在我们诊所接受评估的女性被纳入研究。根据eMTS期间是否检测到异常,该队列被分为两组。然后我们比较两组中可能与eMTS异常检测相关的因素。对于定量和定性变量,我们分别使用t检验和卡方检验来确定与eMTS异常检测相关的变量,并使用逻辑回归进行多变量分析。

在我们多学科诊所评估的1525名女性中,340名被纳入研究。与lMTS相比,eMTS的异常检测率为59.1%。特定器官系统的eMTS检测率如下:骨骼系统,57%;心脏,52%;肾脏和泌尿系统先天性异常(CAKUT),44%;中枢神经系统,32.4%;胸部,33%;腹部,28%。在多变量分析中,孕早期筛查异常(调整后比值比3.2;95%置信区间1.26 - 8.08)和多发异常(调整后比值比1.86;95%置信区间1.02 - 3.37)被发现与eMTS异常检测相关。

eMTS检测率接近60%,在检测骨骼、心脏和CAKUT异常方面最为准确。由于eMTS是以社区为基础的,这个比率可能反映了“真实世界”的情况。我们的研究结果支持考虑常规进行eMTS或孕早期扫描以进行早期诊断和决策,作为lMTS的辅助手段。未来的研究将考察早期扫描的成本效益。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f782/11476993/c1d375dfdef9/jcm-13-05750-g001.jpg

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