A retrospective survey of perinatal risk factors of 104 living children with holoprosencephaly

Elaine E. Stashinko, Nancy J. Clegg, Heather A. Kammann, Vicki T. Sweet, Mauricio R. Delgado, Jin S. Hahn, Eric B. Levey

Research output: Contribution to journalReview articlepeer-review

49 Scopus citations


Holoprosencephaly (HPE) is a brain malformation resulting from a primary defect in development of the basal forebrain during early gestation. Prenatal genetic and environmental factors and birth outcomes were described in a population of 104 children with holoprosencephaly referred to three clinical centers from 1998 through 2002. The mean child age was 4 years. Of cases karyotyped, 9% presented with a chromosomal abnormality. This study of living children with holoprosencephaly, the majority of whom are cytogenetically normal, provides new information on the subsample of children with a less severe phenotype. Most children were born at term; about 51% were microcephalic at birth. Consistent with previous research, the association between HPE and maternal history of diabetes merits further investigation. Several findings have important implications for future research. Only 22% of the children in this study sample were diagnosed with holoprosencephaly prenatally. The vast majority of children (72%) were diagnosed with HPE between birth and 1 year of age. Also, 19% of the cases referred to the Carter Centers with HPE were not confirmed on scan review. When possible, future population-based epidemiological studies should emphasize mechanisms that identify children with HPE outside of the newborn period and confirm the diagnosis by review of MRI or high quality CT brain scan.

Original languageEnglish (US)
Pages (from-to)114-119
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume128 A
Issue number2
StatePublished - Jul 15 2004


  • Holoprosencephaly
  • Prenatal diagnosis
  • Risk factors

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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