Criteria for the prenatal diagnosis of classic bladder exstrophy

Gearhart, John P.; Ben‐Chaim, Jacob; Jeffs, Robert D.; Sanders, Roger C.

doi:10.1016/0029-7844(95)00069-4

Cited by 133 publications

(57 citation statements)

References 6 publications

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“…However, most prenatal reports describe detection of fetuses with CE, due to the severity and the high frequency of NTDs associated with this phenotype. 20 The disproportion of barely diagnosed milder but much more prevalent BEEC phenotypes could be due to the fact that prenatal ultrasound focuses more on imaging of NTDs than on the full urinary bladder.…”

Section: Discussionmentioning

confidence: 99%

Epidemiological Survey of 214 Families With Bladder Exstrophy-Epispadias Complex

et al. 2008

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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.

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Section: Discussionmentioning

confidence: 99%

Epidemiological Survey of 214 Families With Bladder Exstrophy-Epispadias Complex

et al. 2008

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“…A limited number of cases of prenatally diagnosed bladder exstrophy have been reported in the English literature during the last 15 years (Table 1) [5][6][7][8][9][10][11][12][13] . Usual findings include nonvisualization of the fetal bladder, low insertion of the umbilicus, pubic bone diastasis, epispadias and small genitals with normal kidneys and normal amniotic fluid volume.…”

Section: Discussionmentioning

confidence: 99%

“…Cacciari and collaborators 5 summarize 10 case reports in which a nonvisualized bladder, normal kidneys and low umbilical cord insertion were found in all cases. Gearhart and coworkers 12 analyzed retrospectively prenatal ultrasounds in 25 pregnancies and found that the diagnosis of bladder exstrophy could be made in 67% of the cases. A non-visible bladder was the most common finding.…”

Section: Discussionmentioning

confidence: 99%

“…Only a few cases of prenatal diagnosis have been reported in the English literature during the last 15 years [5][6][7][8][9][10][11][12][13][14] . The prenatal diagnosis is based on a non-visible fetal bladder, normal fetal kidneys, normal amniotic fluid volume, low insertion of the umbilical cord, a bulging mass protruding from the lower abdominal wall, a small penis, epispadias and splayed iliac bones [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15] . Prenatal counseling has gained increasing relevance for the quality of life and long-term prognosis in adults affected by bladder exstrophy, particularly with regard to urinary incontinence, and sexual and reproductive problems in affected individuals 5 .…”

Section: Introductionmentioning

confidence: 99%

“…Prenatal counseling has gained increasing relevance for the quality of life and long-term prognosis in adults affected by bladder exstrophy, particularly with regard to urinary incontinence, and sexual and reproductive problems in affected individuals 5 . The literature contains several reports and studies of cases diagnosed in newborns 12,14,[16][17][18][19] .…”

Section: Introductionmentioning

confidence: 99%

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