Kagan, Karl Oliver, Berg, Christoph, Dufke, Andreas, Geipel, Annegret, Hoopmann, Markus and Abele, Harald (2015). Novel fetal and maternal sonographic findings in confirmed cases of Beckwith-Wiedemann syndrome. Prenat. Diagn., 35 (4). S. 394 - 400. HOBOKEN: WILEY-BLACKWELL. ISSN 1097-0223
Full text not available from this repository.Abstract
ObjectiveThe objective of the study was to examine the prenatal anomalies in fetuses with Beckwith-Wiedemann syndrome (BWS). MethodsThe study included a retrospective assessment of 12 pregnancies that were seen at three tertiary referral centres (Universities of Tubingen, Bonn, and Cologne/Germany). The genetic mutation, the results of the second trimester ultrasound examination, and the outcome of the pregnancies are shown. Biometric data were transformed into z-values. ResultsMedian gestational age at the time of examination was 22.6 (range 19.0-29.7) weeks of gestation. In all cases, the head circumference (HC) and the femur length (FL) were within the normal range, but the HC-FL ratio was above the 95th centile in 75% of the cases. An exomphalos, macroglossia, and visceromegaly were observed in 67%, 50%, and 83% of the cases, and in 58% and 83%, there were polyhydramnios and placentamegaly respectively. The fetal pancreas was identified in three quarters of the cases. A third of the women had large, overstimulation-like ovaries, although each pregnancy was conceived naturally. In four cases, beta-human chorionic gonadotropin (hCG) levels were measured and mean hCG levels were 498106IU/L. DiscussionBesides exomphalos, BWS should be considered if there is macroglossia, a distinct growth pattern, pancreatic hyperplasia, placentamegaly, and substantially increased levels of beta-hCG. (c) 2015 John Wiley & Sons, Ltd.
Item Type: | Journal Article | ||||||||||||||||||||||||||||
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URN: | urn:nbn:de:hbz:38-403494 | ||||||||||||||||||||||||||||
DOI: | 10.1002/pd.4555 | ||||||||||||||||||||||||||||
Journal or Publication Title: | Prenat. Diagn. | ||||||||||||||||||||||||||||
Volume: | 35 | ||||||||||||||||||||||||||||
Number: | 4 | ||||||||||||||||||||||||||||
Page Range: | S. 394 - 400 | ||||||||||||||||||||||||||||
Date: | 2015 | ||||||||||||||||||||||||||||
Publisher: | WILEY-BLACKWELL | ||||||||||||||||||||||||||||
Place of Publication: | HOBOKEN | ||||||||||||||||||||||||||||
ISSN: | 1097-0223 | ||||||||||||||||||||||||||||
Language: | English | ||||||||||||||||||||||||||||
Faculty: | Unspecified | ||||||||||||||||||||||||||||
Divisions: | Unspecified | ||||||||||||||||||||||||||||
Subjects: | no entry | ||||||||||||||||||||||||||||
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URI: | http://kups.ub.uni-koeln.de/id/eprint/40349 |
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