Follow Your Nose: Repeat Nasal Bone Evaluation in First-Trimester Screening for Down Syndrome

Kristen A. Miller; Katelynn G. Sagaser; Christine B. Hertenstein; Karin J. Blakemore; Katherine R. Forster; Cathleen S. Lawson; Angie C. Jelin

doi:10.1002/jum.16190

Follow Your Nose: Repeat Nasal Bone Evaluation in First-Trimester Screening for Down Syndrome

Kristen A. Miller, Katelynn G. Sagaser, Christine B. Hertenstein, Karin J. Blakemore, Katherine R. Forster, Cathleen S. Lawson, Angie C. Jelin

School of Medicine

Research output: Contribution to journal › Article › peer-review

Abstract

Objective: Examine whether repeat nasal bone evaluation following an absent/uncertain nasal bone on first-trimester screening (FTS) improves Down syndrome (DS) screening specificity. Methods: A retrospective chart review of FTS sonograms in one center from January 2015 to January 2018 was performed. Data was extracted for those with an absent/uncertain nasal bone. Repeat evaluations were offered. Results: Of 6780 FTS sonograms, 589 (8.7%) had an absent/uncertain nasal bone. Upon repeat exam, 268/376 (71.3%) had a present nasal bone. Compared with Black patients, patients of other ethnicities were more likely to have a present nasal bone on exam 2 (P <.00001). Of 268 patients with a present nasal bone on exam 2, 37 (13.8%) had an abnormal DS risk following exam 1; 34/37 (91.9%) normalized following nasal bone visualization, dropping the screen positive rate to 1.1%. Conclusion: Repeat nasal bone examination is beneficial in refining DS risk assessment and improves the specificity of FTS.

Original language	English (US)
Pages (from-to)	1709-1716
Number of pages	8
Journal	Journal of Ultrasound in Medicine
Volume	42
Issue number	8
DOIs	https://doi.org/10.1002/jum.16190
State	Published - Aug 2023

Keywords

Down syndrome screening
first-trimester screening
nuchal translucency ultrasound
prenatal ultrasound

ASJC Scopus subject areas

Radiological and Ultrasound Technology
Radiology Nuclear Medicine and imaging

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10.1002/jum.16190

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title = "Follow Your Nose: Repeat Nasal Bone Evaluation in First-Trimester Screening for Down Syndrome",

abstract = "Objective: Examine whether repeat nasal bone evaluation following an absent/uncertain nasal bone on first-trimester screening (FTS) improves Down syndrome (DS) screening specificity. Methods: A retrospective chart review of FTS sonograms in one center from January 2015 to January 2018 was performed. Data was extracted for those with an absent/uncertain nasal bone. Repeat evaluations were offered. Results: Of 6780 FTS sonograms, 589 (8.7%) had an absent/uncertain nasal bone. Upon repeat exam, 268/376 (71.3%) had a present nasal bone. Compared with Black patients, patients of other ethnicities were more likely to have a present nasal bone on exam 2 (P <.00001). Of 268 patients with a present nasal bone on exam 2, 37 (13.8%) had an abnormal DS risk following exam 1; 34/37 (91.9%) normalized following nasal bone visualization, dropping the screen positive rate to 1.1%. Conclusion: Repeat nasal bone examination is beneficial in refining DS risk assessment and improves the specificity of FTS.",

keywords = "Down syndrome screening, first-trimester screening, nuchal translucency ultrasound, prenatal ultrasound",

author = "Miller, {Kristen A.} and Sagaser, {Katelynn G.} and Hertenstein, {Christine B.} and Blakemore, {Karin J.} and Forster, {Katherine R.} and Lawson, {Cathleen S.} and Jelin, {Angie C.}",

note = "Funding Information: ACJ is funded by grant K23DK119949 from the National Institutes of Health (NIH). The contents of the publication are solely the responsibility of the authors and do not necessarily represent the official views of the NIH. Publisher Copyright: {\textcopyright} 2023 American Institute of Ultrasound in Medicine.",

year = "2023",

month = aug,

doi = "10.1002/jum.16190",

language = "English (US)",

volume = "42",

pages = "1709--1716",

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T2 - Repeat Nasal Bone Evaluation in First-Trimester Screening for Down Syndrome

AU - Miller, Kristen A.

AU - Sagaser, Katelynn G.

AU - Hertenstein, Christine B.

AU - Blakemore, Karin J.

AU - Forster, Katherine R.

AU - Lawson, Cathleen S.

AU - Jelin, Angie C.

N1 - Funding Information: ACJ is funded by grant K23DK119949 from the National Institutes of Health (NIH). The contents of the publication are solely the responsibility of the authors and do not necessarily represent the official views of the NIH. Publisher Copyright: © 2023 American Institute of Ultrasound in Medicine.

PY - 2023/8

Y1 - 2023/8

N2 - Objective: Examine whether repeat nasal bone evaluation following an absent/uncertain nasal bone on first-trimester screening (FTS) improves Down syndrome (DS) screening specificity. Methods: A retrospective chart review of FTS sonograms in one center from January 2015 to January 2018 was performed. Data was extracted for those with an absent/uncertain nasal bone. Repeat evaluations were offered. Results: Of 6780 FTS sonograms, 589 (8.7%) had an absent/uncertain nasal bone. Upon repeat exam, 268/376 (71.3%) had a present nasal bone. Compared with Black patients, patients of other ethnicities were more likely to have a present nasal bone on exam 2 (P <.00001). Of 268 patients with a present nasal bone on exam 2, 37 (13.8%) had an abnormal DS risk following exam 1; 34/37 (91.9%) normalized following nasal bone visualization, dropping the screen positive rate to 1.1%. Conclusion: Repeat nasal bone examination is beneficial in refining DS risk assessment and improves the specificity of FTS.

AB - Objective: Examine whether repeat nasal bone evaluation following an absent/uncertain nasal bone on first-trimester screening (FTS) improves Down syndrome (DS) screening specificity. Methods: A retrospective chart review of FTS sonograms in one center from January 2015 to January 2018 was performed. Data was extracted for those with an absent/uncertain nasal bone. Repeat evaluations were offered. Results: Of 6780 FTS sonograms, 589 (8.7%) had an absent/uncertain nasal bone. Upon repeat exam, 268/376 (71.3%) had a present nasal bone. Compared with Black patients, patients of other ethnicities were more likely to have a present nasal bone on exam 2 (P <.00001). Of 268 patients with a present nasal bone on exam 2, 37 (13.8%) had an abnormal DS risk following exam 1; 34/37 (91.9%) normalized following nasal bone visualization, dropping the screen positive rate to 1.1%. Conclusion: Repeat nasal bone examination is beneficial in refining DS risk assessment and improves the specificity of FTS.

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Follow Your Nose: Repeat Nasal Bone Evaluation in First-Trimester Screening for Down Syndrome

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