The 11-13-week scan: diagnosis and outcome of holoprosencephaly, exomphalos and megacystis.

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.

• Authors: K O Kagan, I Staboulidou, A Syngelaki, J Cruz, K H Nicolaides
• Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (Ultrasound Obstet Gynecol) Vol. 36 Issue 1 Pg. 10-4 (Jul 2010) ISSN: 1469-0705 [Electronic] England
• PMID: 20564304 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2010 ISUOG. Published by John Wiley & Sons, Ltd.

Topics

• Adolescent
• Adult
• Down Syndrome (diagnostic imaging)
• Female
• Gestational Age
• Hernia, Umbilical (diagnostic imaging)
• Holoprosencephaly (diagnostic imaging)
• Humans
• Middle Aged
• Pregnancy
• Pregnancy Outcome
• Pregnancy Trimester, First
• Prevalence
• Remission, Spontaneous
• Ultrasonography, Prenatal (methods)
• Urinary Bladder (abnormalities, diagnostic imaging)
• Young Adult