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

Details

• Alternative Title:
  Am J Med Genet C Semin Med Genet
• Personal Author:
  Summers, April D. ; Reefhuis, Jennita ; Taliano, Joanna ; Rasmussen, Sonja A.
• Description:
  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.
• Subjects:
  Diabetes Mellitus Female Holoprosencephaly Humans Pregnancy Risk Factors Twins
• Keywords:
  Cyclopia Diabetes Holoprosencephaly Sex Ratio Twinning
• Source:
  Am J Med Genet C Semin Med Genet. 178(2):151-164
• Pubmed ID:
  29761639
• Pubmed Central ID:
  PMC6705603
• Document Type:
  Journal Article
• Funding:
  CC999999/Intramural CDC HHSUnited States/
• Volume:
  178
• Issue:
  2
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha256:234e3abc17f4ffd35f4ea084c55a0d2dee7b172bec07a1b6a611434e609873c8
• Download URL:
  https://stacks.cdc.gov/view/cdc/80872/cdc_80872_DS1.pdf
• File Type:
  [PDF - 322.44 KB ]