Document Detail

The 11-13-week scan: diagnosis and outcome of holoprosencephaly, exomphalos and megacystis.
MedLine Citation:
PMID:  20564304     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To determine the prevalence and outcome of fetuses with holoprosencephaly, exomphalos and megacystis diagnosed at 11-13 weeks of gestation.
METHODS: As part of a prospective screening study for trisomy 21 in singleton pregnancies at 11 + 0 to 13 + 6 weeks' gestation, transabdominal ultrasound examination was performed to diagnose holoprosencephaly, exomphalos and megacystis. Fetal karyotype and pregnancy outcome in fetuses with these defects were examined.
RESULTS: Screening was carried out in 57 119 pregnancies. The prevalence of holoprosencephaly, exomphalos and megacystis was 1 : 1298, 1 : 381 and 1 : 1632, respectively. Chromosomal abnormalities, mainly trisomies 18 and 13, were found in 65.9% of fetuses with holoprosencephaly, in 55.3% with exomphalos and in 31.4% with megacystis. There was spontaneous resolution of the defect by 20 weeks in 92.5% of euploid fetuses with exomphalos containing only bowel and in 90% of the euploid fetuses with megacystis and bladder length of < or = 15 mm.
CONCLUSIONS: A high proportion of fetuses with holoprosencephaly, exomphalos and megacystis diagnosed at 11-13 weeks of gestation are aneuploid, but in the majority of cases exomphalos and megacystis represent temporary abnormalities that resolve spontaneously.
K O Kagan; I Staboulidou; A Syngelaki; J Cruz; K H Nicolaides
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology     Volume:  36     ISSN:  1469-0705     ISO Abbreviation:  Ultrasound Obstet Gynecol     Publication Date:  2010 Jul 
Date Detail:
Created Date:  2010-07-01     Completed Date:  2010-12-17     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9108340     Medline TA:  Ultrasound Obstet Gynecol     Country:  England    
Other Details:
Languages:  eng     Pagination:  10-4     Citation Subset:  IM    
Copyright Information:
Copyright 2010 ISUOG. Published by John Wiley & Sons, Ltd.
Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.
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MeSH Terms
Down Syndrome / ultrasonography*
Gestational Age
Hernia, Umbilical / ultrasonography*
Holoprosencephaly / ultrasonography*
Middle Aged
Pregnancy Outcome
Pregnancy Trimester, First
Remission, Spontaneous
Ultrasonography, Prenatal / methods
Urinary Bladder / abnormalities*,  ultrasonography
Young Adult

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