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. 2023 Aug;42(8):1709-1716.
doi: 10.1002/jum.16190. Epub 2023 Feb 6.

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

Kristen A Miller  1 , Katelynn G Sagaser  2 , Christine B Hertenstein  1 , Karin J Blakemore  1 , Katherine R Forster  3 , Cathleen S Lawson  1 , Angie C Jelin  1
Affiliations

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

Kristen A Miller et al. J Ultrasound Med. 2023 Aug.

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.

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Conflict of interest statement

Competing Interests Statement:

KGS is an employee of Juno Diagnostics. All authors KAM, CBH, KJB, KRF, CSL, and ACJ declare they have no competing financial interests in relation to the work described. All authors declare they have no competing financial interests in relation to the work described.

Figures

Figure 1:
Figure 1:
Results of evaluations following identification of absent/uncertain nasal bone in the first trimester. *Genetic counseling offered to patients with additional risk factors. ǂ Excluded from dataset due to late gestational age or missed abortion. NB = nasal bone
Figure 2:
Figure 2:
Nasal bone visualization on exam 2 and self-reported ethnicity of the pregnant person (n = 376)
Figure 3:
Figure 3:
Fetal Down syndrome risk modification by combined FTS following nasal bone visualization on exam 2 (n = 218)
See this image and copyright information in PMC

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