Kagan, K. O., Sonek, J., Berg, X., Berg, C., Mallmann, M., Abele, H., Hoopmann, M. and Geipel, A. (2015). Facial markers in second- and third-trimester fetuses with trisomy 18 or 13, triploidy or Turner syndrome. Ultrasound Obstet. Gynecol., 46 (1). S. 60 - 66. HOBOKEN: WILEY-BLACKWELL. ISSN 1469-0705

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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 5th 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 95th 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 95th centile or the nasal bone was absent in 72 (54.5%), 20 (50.0%), six (60.0%) and four (57.1%) cases, respectively. Conclusion 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. Copyright (C) 2014 ISUOG. Published by John Wiley & Sons Ltd.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Kagan, K. O.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sonek, J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Berg, X.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Berg, C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mallmann, M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Abele, H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoopmann, M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Geipel, A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-399702
DOI: 10.1002/uog.14655
Journal or Publication Title: Ultrasound Obstet. Gynecol.
Volume: 46
Number: 1
Page Range: S. 60 - 66
Date: 2015
Publisher: WILEY-BLACKWELL
Place of Publication: HOBOKEN
ISSN: 1469-0705
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
PREFRONTAL SPACE RATIO; NASAL BONE LENGTH; PRENASAL THICKNESS; DOWN-SYNDROME; TRISOMIES 21; TRIMESTER; ABNORMALITIES; METAANALYSIS; GESTATION; MODELMultiple languages
Acoustics; Obstetrics & Gynecology; Radiology, Nuclear Medicine & Medical ImagingMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/39970

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