Nasal bone length, prenasal thickness, prenasal thickness-to-nasal bone length ratio and prefrontal space ratio in second- And third-trimester fetuses with Down syndrome

F. I. Vos, E. A.P. De Jong-Pleij, M. Bakker, E. Tromp, E. Pajkrt, K. O. Kagan, C. M. Bilardo

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Objectives: To evaluate nasal bone length (NBL), prenasal thickness (PT), prenasal thickness-to-nasal bone length (PT-NBL) ratio and prefrontal space ratio (PFSR) as markers for Down syndrome in the second and third trimesters. Methods: NBL, PT, PT-NBL ratio and PFSR were measured retrospectively in stored two-dimensional images or three-dimensional volumes (corrected to the mid-sagittal plane) of fetuses with Down syndrome, which were retrieved from the digital databases of participating units.Measurements were performed on the stored images and volumes by two experienced operators, and the values obtained were compared to our previously reported normal ranges for euploid fetuses in order to assess the detection rates for Down syndrome. Results: A total of 159 fetuses with Down syndrome were included in the analysis, six of which were excluded because of inadequate available images. Median maternal age was 36.0 years and median gestational age was 23 + 1 weeks. NBL and PT were correlated with gestational age (P < 0.001), but the PT-NBL ratio and PFSR were not. Mean NBL, PT, PT-NBL ratio and PFSR were 4.42 mm, 5.56 mm, 1.26 and 0.34, respectively. The nasal bone was absent in 23 (15.4%) cases. As a marker for Down syndrome, the PT-NBL ratio yielded the highest detection rate (86.2%), followed by PFSR (79.7%), PT (63.4%) and NBL (61.9%). All markers were abnormal in 33.6% of cases, whilst all were normal in 4.7%. At least one of the four markers was abnormal in 95.3%, and either the PT-NBL ratio or PFSR was abnormal in 93.8%. Detection rates were not related to gestational age. Conclusions: The PT-NBL ratio and PFSR are robust second- and third-trimester markers for Down syndrome. Both provide high detection rates and are easy to use, as the cut-off for normality is constant throughout gestation.

Original languageEnglish
Pages (from-to)211-216
Number of pages6
JournalUltrasound in Obstetrics and Gynecology
Volume45
Issue number2
DOIs
Publication statusPublished - 1 Feb 2015

Cite this

@article{cd1a768ab1d04ff1a0548a1fe99bcef4,
title = "Nasal bone length, prenasal thickness, prenasal thickness-to-nasal bone length ratio and prefrontal space ratio in second- And third-trimester fetuses with Down syndrome",
abstract = "Objectives: To evaluate nasal bone length (NBL), prenasal thickness (PT), prenasal thickness-to-nasal bone length (PT-NBL) ratio and prefrontal space ratio (PFSR) as markers for Down syndrome in the second and third trimesters. Methods: NBL, PT, PT-NBL ratio and PFSR were measured retrospectively in stored two-dimensional images or three-dimensional volumes (corrected to the mid-sagittal plane) of fetuses with Down syndrome, which were retrieved from the digital databases of participating units.Measurements were performed on the stored images and volumes by two experienced operators, and the values obtained were compared to our previously reported normal ranges for euploid fetuses in order to assess the detection rates for Down syndrome. Results: A total of 159 fetuses with Down syndrome were included in the analysis, six of which were excluded because of inadequate available images. Median maternal age was 36.0 years and median gestational age was 23 + 1 weeks. NBL and PT were correlated with gestational age (P < 0.001), but the PT-NBL ratio and PFSR were not. Mean NBL, PT, PT-NBL ratio and PFSR were 4.42 mm, 5.56 mm, 1.26 and 0.34, respectively. The nasal bone was absent in 23 (15.4{\%}) cases. As a marker for Down syndrome, the PT-NBL ratio yielded the highest detection rate (86.2{\%}), followed by PFSR (79.7{\%}), PT (63.4{\%}) and NBL (61.9{\%}). All markers were abnormal in 33.6{\%} of cases, whilst all were normal in 4.7{\%}. At least one of the four markers was abnormal in 95.3{\%}, and either the PT-NBL ratio or PFSR was abnormal in 93.8{\%}. Detection rates were not related to gestational age. Conclusions: The PT-NBL ratio and PFSR are robust second- and third-trimester markers for Down syndrome. Both provide high detection rates and are easy to use, as the cut-off for normality is constant throughout gestation.",
keywords = "Down syndrome, Nasal bone length, Prefrontal space ratio, Prenasal thickness, Prenasal thickness-to-nasal bone length ratio, Trisomy 21, Ultrasound",
author = "Vos, {F. I.} and {De Jong-Pleij}, {E. A.P.} and M. Bakker and E. Tromp and E. Pajkrt and Kagan, {K. O.} and Bilardo, {C. M.}",
year = "2015",
month = "2",
day = "1",
doi = "10.1002/uog.13391",
language = "English",
volume = "45",
pages = "211--216",
journal = "Ultrasound in Obstetrics and Gynecology",
issn = "0960-7692",
publisher = "John Wiley and Sons Ltd",
number = "2",

}

Nasal bone length, prenasal thickness, prenasal thickness-to-nasal bone length ratio and prefrontal space ratio in second- And third-trimester fetuses with Down syndrome. / Vos, F. I.; De Jong-Pleij, E. A.P.; Bakker, M.; Tromp, E.; Pajkrt, E.; Kagan, K. O.; Bilardo, C. M.

In: Ultrasound in Obstetrics and Gynecology, Vol. 45, No. 2, 01.02.2015, p. 211-216.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - Nasal bone length, prenasal thickness, prenasal thickness-to-nasal bone length ratio and prefrontal space ratio in second- And third-trimester fetuses with Down syndrome

AU - Vos, F. I.

AU - De Jong-Pleij, E. A.P.

AU - Bakker, M.

AU - Tromp, E.

AU - Pajkrt, E.

AU - Kagan, K. O.

AU - Bilardo, C. M.

PY - 2015/2/1

Y1 - 2015/2/1

N2 - Objectives: To evaluate nasal bone length (NBL), prenasal thickness (PT), prenasal thickness-to-nasal bone length (PT-NBL) ratio and prefrontal space ratio (PFSR) as markers for Down syndrome in the second and third trimesters. Methods: NBL, PT, PT-NBL ratio and PFSR were measured retrospectively in stored two-dimensional images or three-dimensional volumes (corrected to the mid-sagittal plane) of fetuses with Down syndrome, which were retrieved from the digital databases of participating units.Measurements were performed on the stored images and volumes by two experienced operators, and the values obtained were compared to our previously reported normal ranges for euploid fetuses in order to assess the detection rates for Down syndrome. Results: A total of 159 fetuses with Down syndrome were included in the analysis, six of which were excluded because of inadequate available images. Median maternal age was 36.0 years and median gestational age was 23 + 1 weeks. NBL and PT were correlated with gestational age (P < 0.001), but the PT-NBL ratio and PFSR were not. Mean NBL, PT, PT-NBL ratio and PFSR were 4.42 mm, 5.56 mm, 1.26 and 0.34, respectively. The nasal bone was absent in 23 (15.4%) cases. As a marker for Down syndrome, the PT-NBL ratio yielded the highest detection rate (86.2%), followed by PFSR (79.7%), PT (63.4%) and NBL (61.9%). All markers were abnormal in 33.6% of cases, whilst all were normal in 4.7%. At least one of the four markers was abnormal in 95.3%, and either the PT-NBL ratio or PFSR was abnormal in 93.8%. Detection rates were not related to gestational age. Conclusions: The PT-NBL ratio and PFSR are robust second- and third-trimester markers for Down syndrome. Both provide high detection rates and are easy to use, as the cut-off for normality is constant throughout gestation.

AB - Objectives: To evaluate nasal bone length (NBL), prenasal thickness (PT), prenasal thickness-to-nasal bone length (PT-NBL) ratio and prefrontal space ratio (PFSR) as markers for Down syndrome in the second and third trimesters. Methods: NBL, PT, PT-NBL ratio and PFSR were measured retrospectively in stored two-dimensional images or three-dimensional volumes (corrected to the mid-sagittal plane) of fetuses with Down syndrome, which were retrieved from the digital databases of participating units.Measurements were performed on the stored images and volumes by two experienced operators, and the values obtained were compared to our previously reported normal ranges for euploid fetuses in order to assess the detection rates for Down syndrome. Results: A total of 159 fetuses with Down syndrome were included in the analysis, six of which were excluded because of inadequate available images. Median maternal age was 36.0 years and median gestational age was 23 + 1 weeks. NBL and PT were correlated with gestational age (P < 0.001), but the PT-NBL ratio and PFSR were not. Mean NBL, PT, PT-NBL ratio and PFSR were 4.42 mm, 5.56 mm, 1.26 and 0.34, respectively. The nasal bone was absent in 23 (15.4%) cases. As a marker for Down syndrome, the PT-NBL ratio yielded the highest detection rate (86.2%), followed by PFSR (79.7%), PT (63.4%) and NBL (61.9%). All markers were abnormal in 33.6% of cases, whilst all were normal in 4.7%. At least one of the four markers was abnormal in 95.3%, and either the PT-NBL ratio or PFSR was abnormal in 93.8%. Detection rates were not related to gestational age. Conclusions: The PT-NBL ratio and PFSR are robust second- and third-trimester markers for Down syndrome. Both provide high detection rates and are easy to use, as the cut-off for normality is constant throughout gestation.

KW - Down syndrome

KW - Nasal bone length

KW - Prefrontal space ratio

KW - Prenasal thickness

KW - Prenasal thickness-to-nasal bone length ratio

KW - Trisomy 21

KW - Ultrasound

UR - http://www.scopus.com/inward/record.url?scp=84922612898&partnerID=8YFLogxK

U2 - 10.1002/uog.13391

DO - 10.1002/uog.13391

M3 - Article

VL - 45

SP - 211

EP - 216

JO - Ultrasound in Obstetrics and Gynecology

JF - Ultrasound in Obstetrics and Gynecology

SN - 0960-7692

IS - 2

ER -