Updated: 12/25/2021

Fetal Alcohol Syndrome

Review Topic
  • Snapshot
    • A 3-year-old boy is brought to the pediatrician by his new foster parents. The child was recently adopted and little information was available about his family history, except that his mother was not compliant with prenatal visits had been admitted to the hospital several times for substance abuse. Neuropsychological tests confirm that the child has mild intellectual disability. Physical examination is notable for characteristic facies seen in the image.
  • Introduction
    • Overview
      • fetal alcohol syndrome involves adverse effects to the child that occur due to maternal alcohol consumption during pregnancy
        • diagnosis based on findings in 3 areas
          • characteristic facial anomalies (see below)
          • growth delay
          • cognitive involvement
  • Epidemiology
    • Incidence
      • 1-2 cases per 1000 live births
    • Risk factors
      • significant maternal alcohol consumption during pregnancy
        • consumption of > 6 drinks per day is associated with a 40% risk of fetal alcohol syndrome
        • no safe level of alcohol consumption has been established during pregnancy, though more subtle symptoms occur with decreased consumption
    • Pathophysiology
      • alcohol crosses the placenta to reach the fetus
        • most common teratogen that a fetus may be exposed to in utero
        • ethanol can alter fetal development by disrupting cell differentiation and growth, DNA and protein synthesis, and cell migration
  • Presentation
    • Symptoms
      • intellectual disability
      • decreased muscle tone
      • poor motor coordination
    • Physical exam
      • craniofacial abnormalities
        • short palpebral fissures
        • epicanthal folds
        • thin, smooth border of the upper lip
        • facial hypoplasia
        • microophthalmia
        • strabismus
        • ptosis
      • developmental delay
      • microcephaly
      • heart murmur may be evident
        • from congenital heart defects
          • ASD
          • VSD
  • Studies
    • Chromosomal analysis
      • rule out unbalanced translocations or visible deletions
    • Fluorescent in situ hybridization (FISH)
      • rule out 22q11 deletion
  • Differential
    • 22q11 deletion
      • key distinguishing factor
        • FISH analysis will show 22q11 deletion
    • Maternal phenylketonuria (PKU)
      • key distinguishing factor
        • abnormal level of phenylalanine on PKU blood test
  • Treatment
    • Lifestyle
      • education and social support of at-risk mothers

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