title: Comparison of fetal nasal bone assessment by ultrasound at 11-14 weeks and by postmortem X-ray in trisomy 21: a prospective observational study.
abstract: OBJECTIVE
  To compare nasal bone assessment by ultrasound examination at 11-14 weeks' gestation and postmortem X-ray examination in fetuses with trisomy 21.
  
  
  METHODS
  Twenty-one fetuses with trisomy 21 which had undergone sonographic examination at 11-14 weeks for measurement of nuchal translucency thickness and assessment of the nasal bones were examined by postmortem X-ray following termination of pregnancy.
  
  
  RESULTS
  The nasal bones were absent in 11/21 (52.4%) fetuses on ultrasound examination at 11-14 weeks and in 10/21 (47.6%) fetuses on X-ray examination at 14 to 25 + 5 weeks. Ultrasound and X-ray findings were discordant in 9/21 (42.9%) cases. Eight of 11 (72.7%) fetuses with absent nasal bones on ultrasound examination had a nuchal translucency thickness > 95th centile.
  
  
  CONCLUSIONS
  The high incidence of absent nasal bones in first-trimester fetuses with trisomy 21 is compatible with a developmental delay. Prior to inclusion of nasal bone assessment into risk calculation for trisomy 21, the independence of absence of nasal bones by ultrasound and increased nuchal translucency above the 95th centile at 11-14 weeks should be investigated more extensively.
authors.affiliation: Department of Obstetrics and Gynecology, CHI Poissy St Germain, Université Paris-Ouest, Poissy, France.
authors.forename: C
authors.initials: C
authors.lastname: Larose
authors.forename: P
authors.initials: P
authors.lastname: Massoc
authors.forename: Y
authors.initials: Y
authors.lastname: Hillion
authors.forename: J P
authors.initials: JP
authors.lastname: Bernard
authors.forename: Y
authors.initials: Y
authors.lastname: Ville
mesh_terms: D001344:Autopsy; D004314:Down Syndrome / Q000000981:diagnostic imaging*; D005188:False Negative Reactions; D005189:False Positive Reactions; D005260:Female; D005865:Gestational Age; D006801:Humans; D008297:Male; D009295:Nasal Bone / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011446:Prospective Studies; D011859:Radiography; D014463:Ultrasonography