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首页> 外文期刊>Sao Paulo Medical Journal >Nuchal translucency: an ultrasound marker for fetal chromosomal abnormalities
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Nuchal translucency: an ultrasound marker for fetal chromosomal abnormalities

机译：颈部半透明：用于胎儿染色体异常的超声标记

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CONTEXT: The literature shows an association between several ultrasound markers and chromosome abnormality. Among these, measurement of nuchal translucency has been indicated as a screening method for aneuploidy. The trisomy of chromosome 21 has been most evaluated. OBJECTIVE: To define the best fixed cutoff point for nuchal translucency, with the assistance of the ROC curve, and its accuracy in screening all fetal aneuploidy and trisomy 21 in a South American population. TYPE OF STUDY: Validation of a diagnostic test. SETTING: This study was carried out at the State University of Campinas, Campinas, Brazil. PARTICIPANTS: 230 patients examined by ultrasound at two tertiary-level private centers, at 10 to 14 weeks of gestation. DIAGNOSTIC TEST: The participants consisted of all those patients who had undergone ultrasound imaging at 10 to 14 weeks of gestation to measure nuchal translucency and who had had the fetal or neonatal karyotype identified. MAIN MEASUREMENTS: Maternal age, gestational age, nuchal translucency measurement, fetal or neonatal karyotype. RESULTS: Prevalence of chromosomal defects -- 10%; mean age -- 35.8 years; mean gestational age -- 12 weeks and 2 days; nuchal translucency (NT) thickness -- 2.18 mm. The best balance between sensitivity and specificity were values that were equal to or higher than 2.5 mm for overall chromosomal abnormalities as well as for the isolated trisomy 21. The sensitivity for overall chromosomal abnormalities and trisomy 21 were 69.5% and 75%, respectively, and the positive likelihood ratios were 5.5 and 5.0, respectively. CONCLUSION: The measurement of nuchal translucency was found to be fairly accurate as an ultrasound marker for fetal abnormalities and measurements equal to or higher than 2.5 mm were the best fixed cutoff points.
机译：背景：文献显示几种超声标记物与染色体异常之间存在关联。其中，颈部半透明性的测量已被指示为非整倍性的筛选方法。对21号染色体的三体性进行了最多的评估。目的：借助ROC曲线及其在筛查南美人群中所有胎儿非整倍性和21三体性中的准确性，来确定最佳的颈部半透明固定截止点。研究类型：诊断测试的验证。地点：这项研究是在巴西坎皮纳斯的坎皮纳斯州立大学进行的。参加者：妊娠10到14周时，在两个三级私立医院接受超声检查的230例患者。诊断测试：参与者包括所有在妊娠10到14周时进行了超声成像以测量颈部半透明性并已鉴定出胎儿或新生儿核型的患者。主要测量指标：孕妇年龄，胎龄，颈部半透明性测量，胎儿或新生儿核型。结果：染色体缺陷的患病率-10％;平均年龄-35.8岁;平均胎龄-12周和2天;颈部半透明（NT）厚度-2.18毫米。敏感性和特异性之间的最佳平衡是，对于整体染色体异常以及对于孤立的三体性21，其值等于或高于2.5 mm。对于整体染色体异常和21三体性的敏感性分别为69.5％和75％。正似然比分别为5.5和5.0。结论：发现颈部透明性的测量相当准确，因为超声标记可用于胎儿异常，并且等于或大于2.5 mm的测量是最佳的固定截止点。

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