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Review
. 2018 Jun;178(2):151-164.
doi: 10.1002/ajmg.c.31614. Epub 2018 May 15.

Nongenetic risk factors for holoprosencephaly: An updated review of the epidemiologic literature

April D Summers  1 , Jennita Reefhuis  1 , Joanna Taliano  2 , Sonja A Rasmussen  3
Affiliations
Review

Nongenetic risk factors for holoprosencephaly: An updated review of the epidemiologic literature

April D Summers et al. Am J Med Genet C Semin Med Genet. 2018 Jun.

Abstract

Holoprosencephaly (HPE) is a major structural birth defect of the brain that occurs in approximately 1 in 10,000 live births. Although some genetic causes of HPE are known, a substantial proportion of cases have an unknown etiology. Due to the low birth prevalence and rarity of exposure to many potential risk factors for HPE, few epidemiologic studies have had sufficient sample size to examine risk factors. A 2010 review of the literature identified several risk factors that had been consistently identified as occurring more frequently among cases of HPE, including maternal diabetes, twinning, and a predominance of females, while also identifying a number of potential risk factors that had been less widely studied. In this article, we summarize a systematic literature review conducted to update the evidence for nongenetic risk factors for HPE.

Keywords: cyclopia; diabetes; holoprosencephaly; sex ratio; twinning.

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Conflict of interest statement

CONFLICT OF INTEREST

None.

Figures

FIGURE 1
FIGURE 1
Search strategy for identifying epidemiologic studies of nongenetic risk factors of holoprosencephaly since the 2010 review was conducted. * Johnson and Rasmussen (2010)
See this image and copyright information in PMC

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