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

Abstract:

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.

journal_name

Obstet Gynecol

authors

Malone FD,Ball RH,Nyberg DA,Comstock CH,Saade G,Berkowitz RL,Dugoff L,Craigo SD,Carr SR,Wolfe HM,Tripp T,D'Alton ME,FASTER Research Consortium.

doi

10.1097/01.AOG.0000143255.46196.7a

subject

Has Abstract

pub_date

2004-12-01 00:00:00

pages

1222-8

issue

6

eissn

0029-7844

issn

1873-233X

pii

104/6/1222

journal_volume

104

pub_type

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