Schizencephaly prevalence, prenatal diagnosis and clues to etiology: a register‐based study

Howe, David; Rankin, Judith; Draper, Elizabeth S

doi:10.1002/uog.9069

Cited by 66 publications

(81 citation statements)

References 49 publications

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“…We also had 1 case of partial absence of the septum (posterior septal defect) that had parietal and temporal defects, which is also consistent with the findings of Raybaud et al, 9 who noted a correlation of posterior septal defects with parietal schizencephalic defects. In our study, the absence of the septum pellucidum was detected by prenatal MR imaging in all cases, which was higher compared with the sonography series by Howe et al, 20 because they only detected the absence of the septum pellucidum in 6 of 8 cases.…”

Section: Discussioncontrasting

confidence: 78%

Correlation of Prenatal and Postnatal MRI Findings in Schizencephaly

Nabavizadeh

Zarnow

Bilaniuk

et al. 2014

AJNR Am J Neuroradiol

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Section: Discussioncontrasting

confidence: 78%

Correlation of Prenatal and Postnatal MRI Findings in Schizencephaly

Nabavizadeh

Zarnow

Bilaniuk

et al. 2014

AJNR Am J Neuroradiol

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“…According to previous published research, the incidence of schizencephaly is estimated to be 1.54 in 100,000 live births, and most cases are diagnosed after birth [4]. Antenatal diagnosis of schizencephaly is rare.…”

Section: Discussionmentioning

confidence: 99%

“…We recommend using US and MRI for prenatal diagnosis of fetal schizencephaly whenever possible. Etiologically, schizencephaly is a malformation of cortical development [4]. Yet, progressive destructive processes are also proposed [4].…”

Section: Discussionmentioning

confidence: 99%

“…Etiologically, schizencephaly is a malformation of cortical development [4]. Yet, progressive destructive processes are also proposed [4]. In addition, schizencephaly is also reported to be related to toxins, maternal warfarin [5], cytomegalovirus infection [6,7], genes, fetal brain vascular injury or vascular anomalies, following trauma and amniocentesis [8], alloimmune thrombocytopenia [9,10], and in association with various syndromes [11].…”

Section: Discussionmentioning

confidence: 99%

“…The clefts of fetal schizencephaly may extend through the hemispheres from the ventricles to the pial surface. Two types of fetal schizencephaly are most common: the clefts may be in contact (closed-lip), or widely separated (open-lip) [4].…”

Section: Introductionmentioning

confidence: 99%

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Prenatal Diagnosis of Fetal Schizencephaly by Ultrasonography and Magnetic Resonance Imaging

Bai

Tsai

Cheng

et al. 2012

Journal of Medical Ultrasound

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KEYWORDS fetal schizencephaly, prenatal diagnosis, ultrasonography Schizencephaly is a rare disease with a grave prognosis. Prenatal diagnosis is extremely important for perinatal management and consultation. Here, we present a rare case of fetal schizencephaly detected in utero using prenatal ultrasound and magnetic resonance imaging. The case was confirmed after birth by postnatal magnetic resonance imaging. We believe our case could provide useful information and an additional reference for obstetricians. ª

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Hypothesis: Estrogen related thrombosis explains the pathogenesis and epidemiology of gastroschisis

Lubinsky

2012

American J of Med Genetics Pt A

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A three-part hypothesis is proposed to explain the unusual epidemiology of gastroschisis, a congenital abnormality of the abdominal wall, which has a rising frequency, a higher rate in first and young mothers in whites but not blacks, and a unique negative correlation with obesity. The hypothesis involves: (1) An early estrogenic thrombophilia, (2) racial differences in thrombosis, and (3) thrombotic by-products interfering with early developmental signaling. For the first: (1) An estrogenic thrombophilia is a known effect. (2) A mouse model links excess estrogen to thromboses affecting the fetus. (3) Young and first mothers have higher first trimester estrogen levels. (4) A negative correlation between body mass index and pregnancy estradiol accounts for the weight relationship. (5) Maternal alcohol raises estrogen levels in premenopausal women. (6) A link with atrazine, an estrogenic endocrine disruptor, has been found, and rising frequencies of gastroschisis make this and other such chemicals a particular concern if estrogen is indeed involved. For the second: Blacks have a different thrombophilic gene background and less of a thrombotic response to estrogen than whites, explaining racial differences. For the third: Protein palmitoylation affects cell signaling in development, and lipid rafts, a major aspect of thromboses, facilitate this process. Such thrombotic byproducts could be the source of palmitic acid rich amniotic vacuoles with gastroschisis. Similar vacuoles can occur with limb-body wall defects, another early developmental anomaly associated with decreased maternal age that may have a similar pathogenesis. Later thrombotic related anomalies with a similar epidemiology seem to primarily involve vascular disruptions, but localized signaling anomalies may also occur.

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Schizencephaly prevalence, prenatal diagnosis and clues to etiology: a register‐based study

Abstract: Objectives To establish the prevalence and antenatal diagnosis of schizencephaly in the UK. Methods

Cited by 66 publications

References 49 publications

Correlation of Prenatal and Postnatal MRI Findings in Schizencephaly

Correlation of Prenatal and Postnatal MRI Findings in Schizencephaly

Prenatal Diagnosis of Fetal Schizencephaly by Ultrasonography and Magnetic Resonance Imaging

Hypothesis: Estrogen related thrombosis explains the pathogenesis and epidemiology of gastroschisis

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