Universität zu Köln

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:	Creators Email ORCID ORCID Put Code Kagan, Karl Oliver UNSPECIFIED UNSPECIFIED UNSPECIFIED Berg, Christoph UNSPECIFIED UNSPECIFIED UNSPECIFIED Dufke, Andreas UNSPECIFIED UNSPECIFIED UNSPECIFIED Geipel, Annegret UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoopmann, Markus UNSPECIFIED UNSPECIFIED UNSPECIFIED Abele, Harald UNSPECIFIED UNSPECIFIED UNSPECIFIED
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:	Keywords Language HUMAN CHORIONIC-GONADOTROPIN; PREGNANCY; 2ND-TRIMESTER; DEFECTS; RISK Multiple languages Genetics & Heredity; Obstetrics & Gynecology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/40838