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First-Trimester Nasal Bone Evaluation for Aneuploidy in the General Population

Fergal D. Malone, MD^*, Robert H. Ball, MD, David A. Nyberg, MD, Christine H. Comstock, MD, George Saade, MD^¶, Richard L. Berkowitz, MD^||, Lorraine Dugoff, MD^**, Sabrina D. Craigo, MD, Stephen R. Carr, MD, Honor M. Wolfe, MD^¶¶, Tara Tripp, MA^|||| and Mary E. D'Alton, MD^* the FASTER Research Consortium^*

From the Columbia University College of Physicians and Surgeons, New York, New York; University of Utah and Intermountain HealthCare, Salt Lake City, Utah; Swedish Medical Center, Seattle, Washington; William Beaumont Hospital, Royal Oak, Michigan; ¶University of Texas Medical Branch, Galveston, Texas; ||Mount Sinai School of Medicine, New York, New York; **University of Colorado Health Sciences Center, Denver, Colorado; Tufts University School of Medicine, Boston, Massachusetts; Brown University School of Medicine, Providence, Rhode Island; ¶¶University of North Carolina Medical Center, Chapel Hill, North Carolina; and ||||DM-STAT, Boston, Massachusetts

Address reprint requests to: Fergal Malone, MD, Department of Obstetrics and Gynecology, Columbia University Medical Center, 622 West 168th Street, PH 16–66, New York, NY 10032; e-mail: fdm9{at}columbia.edu.

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.

LEVEL OF EVIDENCE: III

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