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颈项透明层厚度联合鼻骨检查在 11~13+6 孕周筛查 18 三体和 13 三体综合征的应用- 自身经验。

Nasal bone in screening for Trisomy 18 and 13 at 11-13 + 6 weeks of gestation - own experiences.

机构信息

Department of Obstetrics and Gynecology in Ruda Slaska, Medical University of Silesia, Ruda Slaska, Poland.

Center for Prenatal Diagnostic, Opole, Poland.

出版信息

Ginekol Pol. 2020;91(5):256-261. doi: 10.5603/GP.2020.0047.

Abstract

OBJECTIVES

The objective of the paper is the suitability assessment of screening for Trisomy 18 and 13 on the basis of NT measurement, FHR, double test and assessment of Nasal Bone.

MATERIAL AND METHODS

The study was performed in 6,661 singleton pregnancies. In each fetus NT, FHR, DV-PIV were examined. Double test from maternal blood was examined. These ultrasound and biochemical factors were in combined screening investigated. Additional ultrasound marker - Nasal Bone was and its impact on Trisomies 18 and 13 screening was examined.

RESULTS

Two groups of patients were compared - with chromosomal normal and chromosomal abnormalities - Trisomy 18 and 13. Detection Rate of Trisomies 18 and 13 at the risk cutoff 1/300 using combined screening was 84.1% and FPR was 7.1%. Detection Rates of examined chromosomal abnormalities using screening with additional marker - NB was 93.2% and False Positive Rate - 5.6%.

CONCLUSIONS

It should be noted that the qualitative analysis of the assessment of NB in the first trimester significantly influences the improvement of screening values focusing on Trisomy 18 and 13 detection. In summary, our research indicates a more effective type of Trisomy 13 and 18 screening using NT, double test, maternal age, CRL and FHR as well as nasal bone presence and absence.

摘要

目的

本文旨在评估基于 NT 测量、FHR、双重检测以及鼻骨评估进行 18 三体和 13 三体筛查的适用性。

材料与方法

本研究纳入了 6661 例单胎妊娠。对每个胎儿进行 NT、FHR、DV-PIV 检查。同时对母体外周血中的双重检测进行检查。将这些超声和生化因素进行联合筛查。还评估了额外的超声标志物-鼻骨及其对 18 三体和 13 三体筛查的影响。

结果

比较了两组患者,一组染色体正常,另一组染色体异常,包括 18 三体和 13 三体。使用联合筛查,在风险截止值为 1/300 时,18 三体和 13 三体的检出率为 84.1%,假阳性率为 7.1%。使用额外的标志物 NB 进行筛查时,对异常染色体的检出率为 93.2%,假阳性率为 5.6%。

结论

值得注意的是,对妊娠早期 NB 的定性分析评估对提高针对 18 三体和 13 三体的检测的筛查值有重要影响。总之,我们的研究表明,使用 NT、双重检测、孕妇年龄、CRL 和 FHR 以及鼻骨的存在与否,能够更有效地筛查 13 三体和 18 三体。

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