No abstract

Purpose-To identify causative non-genetic and genetic risk factors to the bladder exstrophyepispadias complex (BEEC).Materials and Methods-237 BEEC families were invited to participate and information was obtained from 214 families, mainly comprising European countries.Results-Two families showed familial occurrence. Male predominance (p 0.001) was found among all BEEC subgroups comprising epispadias (E), classical exstrophy of the bladder (CBE) or cloacal exstrophy (CE), with male to female ratios of 1.4, 2.8, and 2.0, respectively. No association with parental age, maternal reproductive history or with periconceptional maternal exposure to alcohol, drugs, chemical noxa, radiation or infections was found. However, periconceptional maternal exposure to smoking (p 0.009) was significantly more common for CE patients than for the combined group of E/CBE patients. Only 16.8% of mothers followed the current recommendations *Correspondence to: Michael Ludwig, Ph.D., Dept. of Clinical Biochemistry and Clinical Pharmacology, University of Bonn, SigmundFreud-Str. 25, D-53105 Bonn, Germany. E-mail: E-mail: mludwig@uni-bonn.de. Publisher's Disclaimer: This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final citable form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. NIH Public Access NIH-PA Author ManuscriptNIH-PA Author Manuscript NIH-PA Author Manuscript of periconceptional folic acid supplementation. 17.6% had started supplementation before the 10 th week of gestation. Interestingly, in the latter group, mothers of CE patients were more compliant (p 0.037) than mothers of the combined group of E/CBE patients. Furthermore, mothers of CE children knew significantly more often prenatally that their child would have a congenital malformation (p < 0.0001) than mothers of E/CBE children.Conclusions-Our study corroborates the hypothesis that E, CBE and CE are causally related, representing a spectrum of the same developmental defect, with a small risk of recurrence within families. Embryonic exposure to maternal smoking appears to enforce the severity, whereas periconceptional folic acid supplementation does not seem to alleviate it. There is a disproportional prenatal ultrasound detection rate between severe and mild phenotypes, possibly due to the neglect of imaging of full urinary bladders with focus on neural tube defects.

Researchers involved in the field of congenital malformations are often forced to work on an animal model. Both accurate description of its normal development and comparative staging with human development will be mandatory. To complete the lacking medical literature, we herein provide such data for the rabbit model. Sampled rabbit embryos were staged using the Carnegie criteria, in order first to determine if they were consistent with the rabbit developmental pattern, and second to compare this pattern with the human one. Our results show a suitable comparison of rabbits and humans in early developmental stages, except for the neural growth.