title: Absence of fetal nasal bone and aneuploidies at first-trimester nuchal translucency screening in unselected pregnancies.
abstract: OBJECTIVE
  The absence of nasal bone (NB) has been noted in trisomy 21 fetuses at first-trimester ultrasound, in high-risk pregnancies. In this study, the nasal bone was evaluated in relation to fetal karyotype, in unselected pregnancies.
  
  
  METHODS
  From September 2001 to September 2002, the fetal facial profile was examined at the 11 to 14 weeks' scan for screening by nuchal translucency (NT). Risks for trisomy 21 were calculated using the Fetal Medicine Foundation's software, and the presence or absence of NB was noted. Prenatal karyotype and pregnancy outcomes were recorded.
  
  
  RESULTS
  NT screening was performed in 5532 fetuses from 5425 pregnancies (85 twins, 8 triplets, 2 quadruplets). The visualization of fetal profile was obtained in 5525 fetuses (99.8%), and in 5491 fetuses (99.4%) the NB was present and in 34 cases (0.6%) it was absent. Fetal karyotype and pregnancy outcome were available in 3503 pregnancies, and 40 chromosomal abnormalities were diagnosed (27 trisomies 21, 5 trisomies 18, 2 trisomies 13, 3 Turner syndromes, 1 partial trisomy 9 and 2 others). The NB was absent in 19 (70%) trisomies 21, 4 trisomies 18 (80%), 2 Turner syndromes (66%), in the partial trisomy 9, in 7 normal karyotype fetuses (0.2%), and in a case with spontaneous first-trimester abortion before prenatal diagnosis. A significant difference was found between NT thickness, expressed as a multiple of the median, in trisomy 21 fetuses with present and absent nasal bone.
  
  
  CONCLUSIONS
  The absence of NB at 11 to 14 weeks is more frequent in fetuses with trisomy 21 and other aneuploidies than in normal karyotype fetuses.
authors.affiliation: Department of Obstetrics and Gynecology, Prenatal and Preimplantation Genetic Diagnosis, Fetal Therapy, Ospedale Microcitemico, Cagliari, Italy.
authors.forename: Maria Angelica
authors.initials: MA
authors.lastname: Zoppi
authors.forename: Rosa Maria
authors.initials: RM
authors.lastname: Ibba
authors.forename: Carolina
authors.initials: C
authors.lastname: Axiana
authors.forename: Marcella
authors.initials: M
authors.lastname: Floris
authors.forename: Fabiola
authors.initials: F
authors.lastname: Manca
authors.forename: Giovanni
authors.initials: G
authors.lastname: Monni
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics*; D000328:Adult; D000782:Aneuploidy; D018568:Crown-Rump Length; D004314:Down Syndrome / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D006801:Humans; D007621:Karyotyping; D008403:Mass Screening / Q000379:methods; D008423:Maternal Age; D008875:Middle Aged; D009295:Nasal Bone / Q000002:abnormalities / Q000000981:diagnostic imaging; D009333:Neck / Q000000981:diagnostic imaging* / Q000196:embryology; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D018566:Pregnancy, High-Risk; D016216:Ultrasonography, Prenatal