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产前筛查唐氏综合征：由于测量精度提高，修正颈项透明层上截断值。

Antenatal screening for Down's syndrome: Revised nuchal translucency upper truncation limit due to improved precision of measurement.

机构信息

Logical Medical Systems Ltd, London, UK.

Wolfson Institute of Preventive Medicine, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

出版信息

J Med Screen. 2021 Jun;28(2):88-92. doi: 10.1177/0969141320937321. Epub 2020 Jul 1.

DOI:10.1177/0969141320937321
PMID:32611238
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8165642/
Abstract

OBJECTIVE

To determine whether the improved precision of nuchal translucency (NT) measurement used in antenatal screening for Down's syndrome observed over time as evidenced by a decrease in the multiple of the median (MoM) standard deviation requires a modification to the NT MoM truncation limits to maintain accurate risk estimation.

METHODS

Probability plots were derived from the measurements of NT MoM values used in a 2018 audit of 22,362 unaffected pregnancies. The plots were used to determine whether the NT MoM upper truncation limit should be lowered. Validation plots were used to assess the screening accuracy of Down's syndrome risk estimates calculated from observed NT MoM values in the 22,362 unaffected pregnancies and 69 Down's syndrome pregnancies for original and revised NT MoM truncation limits.

RESULTS

Probability plots indicated that with improved precision of NT measurements, there was deviation from a Gaussian distribution at less high MoM values than with less precise measurements. Validation plots showed that using the current NT MoM upper truncation limit of 2.5 MoM with improved precision NT measurements overestimates the Down's syndrome risk (median risk in highest risk category expressed as an odds was 53.3:1 and observed prevalence was 1:1.1). The large discrepancy was corrected by changing the NT upper truncation limit to 2.0 MoM (median risk in highest risk category expressed as an odds was 1:1.78 and observed prevalence 1:2.7).

CONCLUSION

The NT MoM upper truncation limit should be reduced from 2.5 to 2.0 MoM.

摘要

目的

确定唐氏综合征产前筛查中颈后透明带（NT）测量精度的提高是否需要修改 NT MoM 截断值，以保持准确的风险估计，这种提高体现在 MoM 标准差的倍数（MoM）减少。

方法

从 2018 年对 22362 例正常妊娠的审计中 NT MoM 值的测量中得出概率图。这些图用于确定是否应降低 NT MoM 上限截断值。验证图用于评估从 22362 例正常妊娠和 69 例唐氏综合征妊娠中观察到的 NT MoM 值计算出的唐氏综合征风险估计的筛查准确性，这些风险估计值分别使用原始和修订的 NT MoM 截断值。

结果

概率图表明，随着 NT 测量精度的提高，在较低的 MoM 值处出现了偏离高斯分布的情况，而不是在较低的测量精度处。验证图表明，使用目前的 NT MoM 上限截断值 2.5 MoM 时，对于精度提高的 NT 测量，唐氏综合征的风险被高估（最高风险类别中的中位数风险表示为比值为 53.3:1，观察到的患病率为 1:1.1）。通过将 NT 上限截断值更改为 2.0 MoM（最高风险类别中的中位数风险表示为比值为 1:1.78，观察到的患病率为 1:2.7），可以纠正这种较大的差异。

结论

NT MoM 上限截断值应从 2.5 降低到 2.0 MoM。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8b1/8165642/77caa5e9a21a/10.1177_0969141320937321-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8b1/8165642/15cc00d3e896/10.1177_0969141320937321-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8b1/8165642/77caa5e9a21a/10.1177_0969141320937321-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8b1/8165642/15cc00d3e896/10.1177_0969141320937321-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8b1/8165642/77caa5e9a21a/10.1177_0969141320937321-fig3.jpg

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