Work

The 11–13‐week scan: diagnosis and outcome of holoprosencephaly, exomphalos and megacystis

Year: 2010

Type: article

Abstract: 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.

Source: Ultrasound in Obstetrics and Gynecology

DOI: 10.1002/uog.7646

Authors: K. O. Kagan, I. Staboulidou, A. Syngelaki, J. Cruz, K. H. Nicolaides

Institutions: Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, University of Tübingen, University College Hospital

Language: English

Topic: Prenatal Screening and Diagnostics

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: Fetal Medicine Foundation