Abstract

ObjectiveTo 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.MethodsProbability 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.ResultsProbability 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).ConclusionThe NT MoM upper truncation limit should be reduced from 2.5 to 2.0 MoM.

Highlights

  • Measurement of nuchal translucency (NT) is an important marker in antenatal screening for Down’s syndrome, trisomy 18 and trisomy 13

  • Deviation from a log-Gaussian distribution is apparent at an NT measurement of about 2.0 multiple of the median (MoM) rather than 2.5 MoM

  • This study shows that the NT MoM upper truncation limit should be revised from 2.5 to 2.0 MoM as a result of the improved prevision of NT measurements over time

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Summary

Introduction

Measurement of nuchal translucency (NT) is an important marker in antenatal screening for Down’s syndrome, trisomy 18 and trisomy 13. The distribution of NT is positively skewed; after log transformation, the distribution is reasonably Gaussian, but there is still a degree of positive skew.[5] To deal with screening markers deviating from Gaussian distributions in the tails of the distributions, it is standard practice to specify truncation limits in which values above or below these limits are assigned values at the truncation limits.[6,7]. As NT measurement has become more precise, there is a case for lowering the upper truncation limit from the 2.5 MoM value[2] set in 2010 to take account of the positively skewed distribution of log-transformed NT MoM values. We here examined data from the Wolfson Institute of Preventive Medicine Antenatal Screening Programme to determine whether there was a need to revise the NT upper truncation limit

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