Absent fetal nasal bone: What does it mean for the euploid fetus

Stephanie Dukhovny, Louise Wilkins-Haug, Thomas D. Shipp, Carol B. Benson, Anjali J. Kaimal, Rosemary Reiss

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


Objectives-Our purpose was to review the outcomes of singleton pregnancies in which an absent nasal bone was noted on first- or second-trimester sonography and aneuploidy was not present. Methods-We identified singleton pregnancies from 2005 to 2011 in which an absent nasal bone was noted on sonography, aneuploidy was excluded, and newborn examinations were available for review. Sonographic reports were reviewed for anomalies, growth, and amniotic fluid volume. Newborn records were reviewed for physical examinations, complications, and radiologic or genetic tests. Results-We identified 142 fetuses with a sonographic appearance of an absent nasal bone. We excluded 52 cases with aneuploidy and 33 in which newborn examination information was unavailable. Fifty-seven cases met inclusion criteria. For 3 euploid fetuses with an absent nasal bone on sonography, the presence of additional anomalies on secondtrimester sonography ultimately signaled an adverse outcome: the presence of multiple congenital anomalies, a microdeletion syndrome, and a specific genetic diagnosis. Conclusions-All cases with adverse outcomes had additional prenatal sonographic findings. For the remainder, normal newborn examination findings provide some reassurance, especially in the setting of otherwise normal second-trimester sonographic findings. A microarray as a test for microdeletion and duplication syndromes in this situation could be considered.

Original languageEnglish (US)
Pages (from-to)2131-2134
Number of pages4
JournalJournal of Ultrasound in Medicine
Issue number12
StatePublished - Dec 1 2013
Externally publishedYes


  • Absent nasal bone
  • Euploid fetus
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Radiological and Ultrasound Technology
  • Radiology Nuclear Medicine and imaging


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