Journal article
Clinical and Risk Factor Analysis of Cloacal Defects in the National Birth Defects Prevention Study
American journal of medical genetics. Part A, Vol.173(11), pp.2873-2885
11/2017
DOI: 10.1002/ajmg.a.38469
PMCID: PMC5650529
PMID: 28960693
Abstract
Cloacal exstrophy (CE) and persistent cloaca (PC) (alternatively termed urorectal septum malformation sequence [URSMS]), represent two major cloacal defects (CDs). Clinical characteristics and risk factors often are studied for both defects combined, rather than exploring if these defects have different etiologies. We enumerated clinical features for 47 CE and 54 PC (inclusive of URSMS) cases from the National Birth Defects Prevention Study. Thirty-three CE cases were classified as isolated and 14 as multiple (presence of unassociated major defects); respective totals for PC cases were 26 and 28. We compared selected child and maternal characteristics between 11829 non-malformed controls and CE and PC cases using chi-square or Fisher’s exact tests. Compared to controls, CE and PC cases were statistically more likely (p<0.05) to be preterm; CE cases were more likely to be multiple births. We conducted logistic regression analysis to estimate odds ratios and 95% confidence intervals for any CD, CE, and PC with selected self-reported maternal pre-pregnancy and periconceptional (one month prior to three months following conception) exposures. In crude and adjusted analyses, we observed significant positive associations for any CD, CE, and PC with use of any fertility medication or assisted reproductive technology procedure. Significant positive associations observed only in crude analyses were any CD with maternal obesity or use of progesterone, any CD and CE with any x-ray, and any CD and PC with use of folate antagonist medications. Our findings provide some of the first insights into potential differing etiologies for CE and PC.
Details
- Title: Subtitle
- Clinical and Risk Factor Analysis of Cloacal Defects in the National Birth Defects Prevention Study
- Creators
- Kim M Keppler-Noreuil - Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, UtahKristin M Conway - University of IowaDereck Shen - Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, UtahAnthony J Rhoads - Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, UtahJohn C Carey - Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, UtahPaul A Romitti - Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, UtahNatl Birth Defects Prevention
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part A, Vol.173(11), pp.2873-2885
- DOI
- 10.1002/ajmg.a.38469
- PMID
- 28960693
- PMCID
- PMC5650529
- NLM abbreviation
- Am J Med Genet A
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- Grant note
- DOI: 10.13039/100000030, name: Centers for Disease Control and Prevention, award: U01DD001035; DOI: 10.13039/100000051, name: National Human Genome Research Institute, award: HG200388‐03
- Language
- English
- Date published
- 11/2017
- Academic Unit
- Epidemiology; Biostatistics
- Record Identifier
- 9983995177202771
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