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Schizencephaly prevalence, prenatal diagnosis and clues to etiology: a register‐based study
Author(s) -
Howe D. T.,
Rankin J.,
Draper E. S.
Publication year - 2012
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.9069
Subject(s) - schizencephaly , medicine , etiology , septum pellucidum , pediatrics , dysplasia , obstetrics , anatomy , psychiatry , epilepsy
Objectives To establish the prevalence and antenatal diagnosis of schizencephaly in the UK. Methods Data on schizencephaly were extracted from six regional congenital anomaly registers. Results Thirty‐eight cases of schizencephaly were identified in 2 567 165 livebirths and stillbirths, giving a total prevalence of 1.48/100 000 births (95% CI, 1.01–1.95). Eighteen (47% (95% CI, 31–63%)) of the 38 cases were identified antenatally. No affected fetus had an abnormal karyotype identified. A high proportion of cases of schizencephaly occurred in younger mothers: 63% were aged 24 years or less, significantly higher ( P < 0.0001) than the corresponding proportion (26%) of mothers in England and Wales. The majority of cases were not identified until after 22 weeks of pregnancy. Additional anomalies associated with vascular disruption sequences were found in eight cases which had septo‐optic dysplasia or absent septum pellucidum, one of which also had gastroschisis. Conclusions Schizencephaly occurs more frequently in the fetuses of younger mothers. It is often associated with septo‐optic dysplasia, suggesting that the two conditions may share a common origin, arising as a result of destructive processes that cause changes in the brain which only become apparent on ultrasound in the second half of pregnancy. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.