Follow Your Nose

Author:

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

Affiliation:

1. Division of Maternal Fetal Medicine, Department of Gynecology and Obstetrics Johns Hopkins Hospital Baltimore Maryland USA

2. Juno Diagnostics San Diego California USA

3. Division of Maternal Fetal Medicine Sibley Memorial Hospital, Johns Hopkins Medicine Washington DC USA

Abstract

ObjectiveExamine whether repeat nasal bone evaluation following an absent/uncertain nasal bone on first‐trimester screening (FTS) improves Down syndrome (DS) screening specificity.MethodsA 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.ResultsOf 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%.ConclusionRepeat nasal bone examination is beneficial in refining DS risk assessment and improves the specificity of FTS.

Funder

National Institutes of Health

Publisher

Wiley

Subject

Radiology, Nuclear Medicine and imaging,Radiological and Ultrasound Technology

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