First-trimester nasal bone evaluation for aneuploidy in the general population

Fergal D. Malone, Robert H. Ball, David A. Nyberg, Christine H. Comstock, George Saade, Richard L. Berkowitz, Lorraine Dugoff, Sabrina D. Craigo, Stephen R. Carr, Honor M. Wolfe, Tara Tripp, Mary E. D'Alton

Research output: Contribution to journalArticlepeer-review

84 Scopus citations


OBJECTIVE: To evaluate the role of fetal nasal bone imaging at 10 3/7 to 13 6/7 weeks as a screening tool for aneuploidy, in a prospective multicenter trial. METHODS: Unselected patients from the general population with viable singleton pregnancies at 10 3/7 to 13 6/7 weeks were recruited at 15 U.S. centers. All had screening with nuchal translucency (NT) ultrasound by specially trained sonographers. In the last 8 months of this trial, first trimester nasal bone evaluation was added to the screening protocol. Nasal bones were described as present, absent, or unable to determine. RESULTS: A total of 38,189 patients completed first trimester NT screening, of whom 6,324 also underwent nasal bone sonography. An acceptable nasal image was obtained in 4,801 cases (76%), with nasal bones described as present in 4,779 (99.5%), and absent in 22 (0.5%). There were 11 identified cases of trisomy-21 in the population of 6,324 patients. In 9 of the 11 cases (82%) the nasal bones were described as present, and 2 cases were described as unable to determine. The only other aneuploidies were 2 cases of trisomy-18, in 1 of which the nasal bones were described as absent, and in 1 present. Absence of nasal bones had sensitivity for aneuploidy of 7.7%, false-positive rate 0.3%, and positive predictive value 4.5%. CONCLUSION: First-trimester nasal bone evaluation was not a useful test for population screening for trisomy-21 and added little to first-trimester NT screening. The difficulty in performing first-trimester nasal bone sonography consistently, in the general population setting, will significantly limit the usefulness of this aneuploidy screening technique.

Original languageEnglish (US)
Pages (from-to)1222-1228
Number of pages7
JournalObstetrics and gynecology
Issue number6
StatePublished - Dec 2004
Externally publishedYes

ASJC Scopus subject areas

  • Obstetrics and Gynecology


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