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

Research output: Contribution to journalArticlepeer-review


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 languageEnglish (US)
Pages (from-to)1709-1716
Number of pages8
JournalJournal of Ultrasound in Medicine
Issue number8
StatePublished - Aug 2023


  • 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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