Are first trimester nuchal septations independent risk factorsfor chromosomal anomalies?

Lauren M. MacK, Wesley Lee, Joan M. Mastrobattista, Michael A. Belfort, Ignatia B. Van Den Veyver, Alireza A. Shamshirsaz, Rodrigo Ruano, Magdalena Sanz Cortes, Andres Espinoza, Arame Thiam Diouf, Jimmy Espinoza

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Objectives-There is conflicting information regarding the role of nuchal septations during first-trimester genetic screening. This study was designed to determine whether nuchal septations are risk factors for chromosomal anomalies, independent of increased nuchal translucency (NT), in the first trimester of pregnancy. Methods-This retrospective cohort study included all women who underwent first-trimester genetic screening between November 2011 and December 2014. The 95th percentile for the NT measurement was calculated for each gestational week. A multivariable logistic regression analysis was performed to determine whether the visualization of nuchal septations was an independent risk factor for chromosomal analysis while controlling for confounding variables. P <.05 was considered significant. Results-Chromosomal abnormalities were present in 1.0% of the population (33 of 3275). The prevalence of chromosomal abnormalities was significantly higher among fetuses with nuchal septations compared to fetuses with normal NT without septations (P <.001) and those with NT above the 95th percentile without septations (P <.001). The sonographic evidence of septations was associated with high risk of chromosomal abnormalities (odds ratio, 40.0; 95% confidence interval, 9.1-174.0) after controlling for NT measurements and other confounding variables. Conclusions-Visualization of nuchal septations during first-trimester genetic screening is a powerful risk factor for chromosomal anomalies, independent of increased NT.

Original languageEnglish (US)
Pages (from-to)155-161
Number of pages7
JournalJournal of Ultrasound in Medicine
Volume36
Issue number1
DOIs
StatePublished - Jan 1 2017
Externally publishedYes

Fingerprint

Nuchal Translucency Measurement
First Pregnancy Trimester
Genetic Testing
Chromosome Aberrations
Confounding Factors (Epidemiology)
Fetus
Statistical Factor Analysis
Cohort Studies
Retrospective Studies
Logistic Models
Odds Ratio
Regression Analysis
Confidence Intervals
Population

Keywords

  • Cystic hygroma
  • First-trimester screen
  • Nuchal septations
  • Nuchal translucency
  • Obstetric ultrasound

ASJC Scopus subject areas

  • Radiological and Ultrasound Technology
  • Radiology Nuclear Medicine and imaging

Cite this

MacK, L. M., Lee, W., Mastrobattista, J. M., Belfort, M. A., Van Den Veyver, I. B., Shamshirsaz, A. A., ... Espinoza, J. (2017). Are first trimester nuchal septations independent risk factorsfor chromosomal anomalies? Journal of Ultrasound in Medicine, 36(1), 155-161. https://doi.org/10.7863/ultra.16.01066

Are first trimester nuchal septations independent risk factorsfor chromosomal anomalies? / MacK, Lauren M.; Lee, Wesley; Mastrobattista, Joan M.; Belfort, Michael A.; Van Den Veyver, Ignatia B.; Shamshirsaz, Alireza A.; Ruano, Rodrigo; Cortes, Magdalena Sanz; Espinoza, Andres; Diouf, Arame Thiam; Espinoza, Jimmy.

In: Journal of Ultrasound in Medicine, Vol. 36, No. 1, 01.01.2017, p. 155-161.

Research output: Contribution to journalArticle

MacK, LM, Lee, W, Mastrobattista, JM, Belfort, MA, Van Den Veyver, IB, Shamshirsaz, AA, Ruano, R, Cortes, MS, Espinoza, A, Diouf, AT & Espinoza, J 2017, 'Are first trimester nuchal septations independent risk factorsfor chromosomal anomalies?', Journal of Ultrasound in Medicine, vol. 36, no. 1, pp. 155-161. https://doi.org/10.7863/ultra.16.01066
MacK LM, Lee W, Mastrobattista JM, Belfort MA, Van Den Veyver IB, Shamshirsaz AA et al. Are first trimester nuchal septations independent risk factorsfor chromosomal anomalies? Journal of Ultrasound in Medicine. 2017 Jan 1;36(1):155-161. https://doi.org/10.7863/ultra.16.01066
MacK, Lauren M. ; Lee, Wesley ; Mastrobattista, Joan M. ; Belfort, Michael A. ; Van Den Veyver, Ignatia B. ; Shamshirsaz, Alireza A. ; Ruano, Rodrigo ; Cortes, Magdalena Sanz ; Espinoza, Andres ; Diouf, Arame Thiam ; Espinoza, Jimmy. / Are first trimester nuchal septations independent risk factorsfor chromosomal anomalies?. In: Journal of Ultrasound in Medicine. 2017 ; Vol. 36, No. 1. pp. 155-161.
@article{766cb0cab3c944678344224c0072ccfd,
title = "Are first trimester nuchal septations independent risk factorsfor chromosomal anomalies?",
abstract = "Objectives-There is conflicting information regarding the role of nuchal septations during first-trimester genetic screening. This study was designed to determine whether nuchal septations are risk factors for chromosomal anomalies, independent of increased nuchal translucency (NT), in the first trimester of pregnancy. Methods-This retrospective cohort study included all women who underwent first-trimester genetic screening between November 2011 and December 2014. The 95th percentile for the NT measurement was calculated for each gestational week. A multivariable logistic regression analysis was performed to determine whether the visualization of nuchal septations was an independent risk factor for chromosomal analysis while controlling for confounding variables. P <.05 was considered significant. Results-Chromosomal abnormalities were present in 1.0{\%} of the population (33 of 3275). The prevalence of chromosomal abnormalities was significantly higher among fetuses with nuchal septations compared to fetuses with normal NT without septations (P <.001) and those with NT above the 95th percentile without septations (P <.001). The sonographic evidence of septations was associated with high risk of chromosomal abnormalities (odds ratio, 40.0; 95{\%} confidence interval, 9.1-174.0) after controlling for NT measurements and other confounding variables. Conclusions-Visualization of nuchal septations during first-trimester genetic screening is a powerful risk factor for chromosomal anomalies, independent of increased NT.",
keywords = "Cystic hygroma, First-trimester screen, Nuchal septations, Nuchal translucency, Obstetric ultrasound",
author = "MacK, {Lauren M.} and Wesley Lee and Mastrobattista, {Joan M.} and Belfort, {Michael A.} and {Van Den Veyver}, {Ignatia B.} and Shamshirsaz, {Alireza A.} and Rodrigo Ruano and Cortes, {Magdalena Sanz} and Andres Espinoza and Diouf, {Arame Thiam} and Jimmy Espinoza",
year = "2017",
month = "1",
day = "1",
doi = "10.7863/ultra.16.01066",
language = "English (US)",
volume = "36",
pages = "155--161",
journal = "Journal of Ultrasound in Medicine",
issn = "0278-4297",
publisher = "American Institute of Ultrasound in Medicine",
number = "1",

}

TY - JOUR

T1 - Are first trimester nuchal septations independent risk factorsfor chromosomal anomalies?

AU - MacK, Lauren M.

AU - Lee, Wesley

AU - Mastrobattista, Joan M.

AU - Belfort, Michael A.

AU - Van Den Veyver, Ignatia B.

AU - Shamshirsaz, Alireza A.

AU - Ruano, Rodrigo

AU - Cortes, Magdalena Sanz

AU - Espinoza, Andres

AU - Diouf, Arame Thiam

AU - Espinoza, Jimmy

PY - 2017/1/1

Y1 - 2017/1/1

N2 - Objectives-There is conflicting information regarding the role of nuchal septations during first-trimester genetic screening. This study was designed to determine whether nuchal septations are risk factors for chromosomal anomalies, independent of increased nuchal translucency (NT), in the first trimester of pregnancy. Methods-This retrospective cohort study included all women who underwent first-trimester genetic screening between November 2011 and December 2014. The 95th percentile for the NT measurement was calculated for each gestational week. A multivariable logistic regression analysis was performed to determine whether the visualization of nuchal septations was an independent risk factor for chromosomal analysis while controlling for confounding variables. P <.05 was considered significant. Results-Chromosomal abnormalities were present in 1.0% of the population (33 of 3275). The prevalence of chromosomal abnormalities was significantly higher among fetuses with nuchal septations compared to fetuses with normal NT without septations (P <.001) and those with NT above the 95th percentile without septations (P <.001). The sonographic evidence of septations was associated with high risk of chromosomal abnormalities (odds ratio, 40.0; 95% confidence interval, 9.1-174.0) after controlling for NT measurements and other confounding variables. Conclusions-Visualization of nuchal septations during first-trimester genetic screening is a powerful risk factor for chromosomal anomalies, independent of increased NT.

AB - Objectives-There is conflicting information regarding the role of nuchal septations during first-trimester genetic screening. This study was designed to determine whether nuchal septations are risk factors for chromosomal anomalies, independent of increased nuchal translucency (NT), in the first trimester of pregnancy. Methods-This retrospective cohort study included all women who underwent first-trimester genetic screening between November 2011 and December 2014. The 95th percentile for the NT measurement was calculated for each gestational week. A multivariable logistic regression analysis was performed to determine whether the visualization of nuchal septations was an independent risk factor for chromosomal analysis while controlling for confounding variables. P <.05 was considered significant. Results-Chromosomal abnormalities were present in 1.0% of the population (33 of 3275). The prevalence of chromosomal abnormalities was significantly higher among fetuses with nuchal septations compared to fetuses with normal NT without septations (P <.001) and those with NT above the 95th percentile without septations (P <.001). The sonographic evidence of septations was associated with high risk of chromosomal abnormalities (odds ratio, 40.0; 95% confidence interval, 9.1-174.0) after controlling for NT measurements and other confounding variables. Conclusions-Visualization of nuchal septations during first-trimester genetic screening is a powerful risk factor for chromosomal anomalies, independent of increased NT.

KW - Cystic hygroma

KW - First-trimester screen

KW - Nuchal septations

KW - Nuchal translucency

KW - Obstetric ultrasound

UR - http://www.scopus.com/inward/record.url?scp=85010550795&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85010550795&partnerID=8YFLogxK

U2 - 10.7863/ultra.16.01066

DO - 10.7863/ultra.16.01066

M3 - Article

C2 - 27925703

AN - SCOPUS:85010550795

VL - 36

SP - 155

EP - 161

JO - Journal of Ultrasound in Medicine

JF - Journal of Ultrasound in Medicine

SN - 0278-4297

IS - 1

ER -