Use of Prenasal Thickness, Nasal Bone Length and Their Ratio in Diagnosing Down Syndrome at 16-25 weeks' of gestation in India: A Retrospective, Observational, Case Control Study

iRadiology Pub Date : 2025-06-14 DOI:10.1002/ird3.70017

Mhaske Nilesh Madhukar, Rachna Gupta, Akshatha Sharma, Smriti Prasad, Anita Kaul

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Abstract

Background

It is found to have association of facial parameters with trisomy 21 fetuses (T 21). We have compared prenasal thickness (PNT), nasal bone length (NBL), and the PNT:NBL ratio of normal fetuses with fetuses with trisomy 21 (T 21) between 16 and 25 weeks of gestation as a diagnostic tool for T 21.

Methods

Facial profile images in the two dimensional (2D) gray scale were assessed to measure fetal NBL and PNT between 16 and 25 weeks of gestation. The PNT:NBL ratio of the fetuses was calculated. Nomograms were constructed from the data of morphologically normal fetuses at live birth. The PNT, NBL, and PNT:NBL ratio of fetuses with confirmed T 21 (n = 31) and morphologically normal fetuses at live birth (controls, n = 3485) were compared.

Results

Nomograms for PNT, NBL, and the PNT:NBL ratio were constructed. In T 21 fetuses, PNT (> 95th percentile), NBL (< 5th percentile), and the PNT:NBL ratio (> 95th percentile) showed a sensitivity of 25%, 29%, and 45% for PNT, NBL, and PNT:NBL, respectively, and specificity of 95%, 96%, and 94%, for PNT, NBL, and PNT:NBL, respectively. All of these markers showed a negative predictive value of 99%.

Conclusion

PNT, NBL, and the PNT:NBL ratio have high diagnostic value for fetuses with Down syndrome and can be incorporated easily in the current second trimester screening protocol for T 21. PNT, NBL, and the PNT:NBL ratio are more specific markers for Down syndrome than those used in previous studies.

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使用鼻前厚度，鼻骨长度和它们的比例诊断唐氏综合征在妊娠16-25周在印度：回顾性，观察性，病例对照研究

研究背景：面部参数与21三体胎儿（t21）有关。我们比较了16 - 25周妊娠期间正常胎儿与21三体胎儿（t21）的鼻前厚度（PNT）、鼻骨长度（NBL）和PNT:NBL比值作为t21的诊断工具。方法采用二维灰度面部图像测量妊娠16 ~ 25周胎儿NBL和PNT。计算胎儿PNT:NBL比值。形态学正常胎儿在活产时的数据构建了形态图。比较t21确诊胎儿（n = 31）和形态正常活产胎儿（n = 3485）的PNT、NBL和PNT:NBL比值。结果构建了PNT、NBL及PNT:NBL比值图。在t21例胎儿中，PNT (>；第95百分位),NBL (<；第5百分位)，PNT:NBL比值(>；第95百分位)对PNT、NBL和PNT:NBL的敏感性分别为25%、29%和45%，对PNT、NBL和PNT:NBL的特异性分别为95%、96%和94%。所有这些指标的阴性预测值均为99%。结论PNT、NBL及PNT:NBL比值对唐氏综合征胎儿有较高的诊断价值，可纳入现行的妊娠中期t21筛查方案。与以往的研究相比，PNT、NBL和PNT:NBL比值是唐氏综合征更特异的标志物。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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iRadiology

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