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Related Experiment Videos

Holoprosencephaly as a possible embryonic alcohol effect.

G M Ronen1, W L Andrews

  • 1Department of Pediatrics, Memorial University of Newfoundland, St. John's, Canada.

American Journal of Medical Genetics
|August 1, 1991
PubMed
Summary

Heavy alcohol consumption during early pregnancy may cause holoprosencephaly, a severe brain malformation. This risk exists even with short-term exposure and may not present typical fetal alcohol syndrome facial features.

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Area of Science:

  • Developmental Neuroscience
  • Teratology
  • Obstetrics and Gynecology

Background:

  • Holoprosencephaly is a severe congenital brain malformation.
  • Alcohol consumption during pregnancy is a known teratogen.
  • Previous studies suggest a link between alcohol and holoprosencephaly, primarily in animal models.

Purpose of the Study:

  • To investigate the potential causal relationship between early pregnancy alcohol exposure and holoprosencephaly in human infants.
  • To explore whether heavy, acute alcohol exposure in the first trimester can lead to holoprosencephaly.
  • To determine if holoprosencephaly resulting from alcohol exposure presents with or without the characteristic facial features of fetal alcohol syndrome.

Main Methods:

  • Case study of three infants diagnosed with holoprosencephaly.

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  • Detailed maternal pregnancy and substance use history, including alcohol, chlordiazepoxide, and imipramine.
  • Clinical examination of infants for malformations, including facial features and neurological status.
  • G-band chromosome analysis to rule out chromosomal abnormalities.

    • Main Results:

    • All three mothers reported heavy alcohol consumption during the first trimester of pregnancy.
    • One infant with alobar holoprosencephaly had associated facial anomalies (median cleft lip, ocular hypotelorism, flat nose).
    • Two infants with semilobar holoprosencephaly and hydrocephalus did not exhibit the typical facial features of fetal alcohol syndrome.
    • All infants had normal G-band chromosome studies.

    Conclusions:

    • These cases support the hypothesis that acute or subacute heavy alcohol exposure in early pregnancy can cause holoprosencephaly in humans.
    • Holoprosencephaly may occur due to alcohol exposure without the need for chronic maternal alcohol use.
    • The development of holoprosencephaly from early alcohol exposure does not necessarily result in the characteristic facial findings of fetal alcohol syndrome.