title: Facial markers in second- and third-trimester fetuses with trisomy 18 or 13, triploidy or Turner syndrome.
abstract: OBJECTIVE
  To examine the effectiveness of nasal bone (NB) evaluation (including NB length (NBL)), prenasal thickness (PT) measurement, the PT:NBL ratio and the prefrontal space ratio (PFSR) in the identification of fetuses with trisomy 18 or 13, triploidy or Turner syndrome.
  
  
  METHODS
  This was a retrospective study using stored midsagittal two-dimensional images of the facial profile of fetuses with trisomy 18 or 13, triploidy or Turner syndrome in the second and third trimesters. For images of acceptable quality, measurements were obtained of NBL (where NB was present), PT, the PT:NBL ratio and PFSR, and these measurements were compared with previously published normal ranges.
  
  
  RESULTS
  The search of databases identified 189 fetuses that met the study criteria: 132 (69.8%) with trisomy 18, 40 (21.2%) with trisomy 13, 10 (5.3%) with triploidy and seven (3.7%) with Turner syndrome. The NB was either absent or its measurement was below the 5(th) centile in 67 (50.8%), 20 (50.0%), five (50.0%) and two (28.6%) of the fetuses with trisomy 18, trisomy 13, triploidy and Turner syndrome, respectively. The PT measurement was above the 95(th) centile in 24 (18.2%), six (15.0%), one (10.0%) and one (14.3%) of the affected fetuses, respectively. The PFSR was abnormal in 72 (54.5%), 29 (72.5%), seven (70%) and four (57.1%) of the cases and the PT:NBL ratio was above the 95(th) centile or the nasal bone was absent in 72 (54.5%), 20 (50.0%), six (60.0%) and four (57.1%) cases, respectively.
  
  
  CONCLUSIONS
  Although each of the facial markers considered provides some useful information in screening for trisomy 18, trisomy 13, triploidy and Turner syndrome, the performance of none of the markers appears to be as good as that in screening for trisomy 21.
authors.affiliation: Department of Obstetrics and Gynaecology, University of Tübingen, Tübingen, Germany.
authors.forename: K O
authors.initials: KO
authors.lastname: Kagan
authors.affiliation: Fetal Medicine Foundation USA, Dayton, OH, USA.|Division of Maternal Fetal Medicine, Wright State University, Dayton, OH, USA.
authors.forename: J
authors.initials: J
authors.lastname: Sonek
authors.affiliation: Department of Obstetrics and Gynaecology, University of Tübingen, Tübingen, Germany.
authors.forename: X
authors.initials: X
authors.lastname: Berg
authors.affiliation: Department of Obstetrics and Gynaecology, University of Bonn, Bonn, Germany.|Department of Obstetrics and Gynaecology, University of Cologne, Cologne, Germany.
authors.forename: C
authors.identifier: http://orcid.org/0000-0002-6201-9271
authors.initials: C
authors.lastname: Berg
authors.affiliation: Department of Obstetrics and Gynaecology, University of Bonn, Bonn, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Mallmann
authors.affiliation: Department of Obstetrics and Gynaecology, University of Tübingen, Tübingen, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Abele
authors.affiliation: Department of Obstetrics and Gynaecology, University of Tübingen, Tübingen, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Hoopmann
authors.affiliation: Department of Obstetrics and Gynaecology, University of Bonn, Bonn, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Geipel
mesh_terms: D002887:Chromosomes, Human, Pair 18 / Q000000981:diagnostic imaging; D004314:Down Syndrome / Q000000981:diagnostic imaging*; D005145:Face / Q000002:abnormalities / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D009295:Nasal Bone / Q000002:abnormalities / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011263:Pregnancy Trimester, Third; D012189:Retrospective Studies; D057885:Triploidy; D014314:Trisomy; D000073842:Trisomy 18 Syndrome; D014424:Turner Syndrome / Q000000981:diagnostic imaging*; D016216:Ultrasonography, Prenatal / Q000379:methods
keywords: Turner syndrome; nasal bone; prefrontal space ratio; prenasal thickness; triploidy; trisomy 13; trisomy 18