Foetal Alcohol Syndrome

Background

• Spectrum of disorders due to alcohol consumption in pregnancy
• Alcohol is a teratogen: it disrupts cellular differentiation and growth, disrupts DNA and protein synthesis and inhibits cell migration.
  • The foetus depends on maternal alcohol metabolism (foetal ADH <10%).  Also alcohol can collect and remain in the amniotic fluid.
  • Finally, alcohol can impair the transfer of important carbohydrate, protein and nutrients across the placenta and indirectly cause growth restriction of the unborn foetus
• It is not recommended for any pregnant women to drink alcohol, although 1-2 units once a week is not thought to be harmful (from literature).
• Alcoholism/alcohol consumption can be difficult to recognise in any individual.  This can be true of pregnant women also.
• Epidemiology
  • In the UK, recent figures suggest an incidence of around 0.2 per 1000 live births

Features/Diagnosis of FAS

• Confirmed maternal alcohol exposure (this may be hard to determine)
• Evidence of characteristic minor facial abnormalities- including two of the following
  • short palpebral fissures (<10th percentile)
  • thin vermillion border of the upper lip
  • smooth philtrum (ridge under nose/above lip)
• Evidence of prenatal and/or postnatal growth restriction
  • particularly if <10th percentile
• Evidence of deficient brain growth or abnormal morphogenesis including one or more of
  • structural brain abnormalities
  • head circumference <10th percentile
• Evidence of a complex pattern of behavioural/cognitive/developmental problems that cannot be explained genetically, by family history or environment alone
  • Global developmental delay as a young child and cognitive/behavioural problems later in childhood
• Birth defects may also be found
  • Heart
    • ASDs, VSDs,
  • musculoskeletal
    • contractures, scoliosis,
  • Renal
    • dysplastic kidneys, horseshoe kidneys, duplex ureter/kidney,
  • Eyes
    • strabismus, ptosis, retinal vascular anomalies, optic nerve hypoplasia,
  • Ears
    • conductive hearing loss, neurosensory hearing loss,
  • Other
    • short fifth digits, clinodactyly of 5th finger, pectus carinatum/excavatum, camptodactyly,

Management/Prognosis

• Most patients just require supportive management and specialist services (e.g. developmental services etc)
• Maternal counselling for this and future pregnancies is important
• Individuals with FAS will often have behavioural problems which may cause difficulties later in life and social support is important later in life.

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