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

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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
Creators:
CreatorsEmailORCIDORCID Put Code
Kagan, Karl OliverUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Berg, ChristophUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dufke, AndreasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Geipel, AnnegretUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoopmann, MarkusUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Abele, HaraldUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-408384
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
Uncontrolled Keywords:
KeywordsLanguage
HUMAN CHORIONIC-GONADOTROPIN; PREGNANCY; 2ND-TRIMESTER; DEFECTS; RISKMultiple languages
Genetics & Heredity; Obstetrics & GynecologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/40838

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