Fetal Alcohol Syndrome Diagnosis
Diagnostic Criteria
- The Centers for Disease Control and Prevention recommends that Fetal Alcohol Syndrome (FAS) diagnosis requires postnatal assessment of three specific facial features, growth deficits, and CNS abnormalities, which cannot be reliably identified or measured prenatally 1, 2, 3
- The American Academy of Pediatrics suggests that facial dysmorphology, including smooth philtrum, thin vermillion border, and small palpebral fissures, requires direct physical examination with standardized measurement tools that do not exist for prenatal imaging 2, 3
- Growth deficits, such as height and/or weight ≤10th percentile, must be plotted on racially/ethnically appropriate growth curves postnatally, as prenatal growth restriction has multiple non-alcohol-related causes 3, 4, 5
- CNS abnormalities, including functional and neurologic deficits, can only be assessed after birth 2, 5
Postnatal Diagnosis
- The Centers for Disease Control and Prevention recommends referral for full FAS evaluation when substantial prenatal alcohol exposure is known and any of the following are present postnatally: all three facial features, one or more facial features with growth deficits, or one or more facial features with CNS abnormalities 6, 7, 8
- Early postnatal diagnosis is critical, as facial features may become less apparent after puberty 1, 3
Clinical Evaluation
- The American Academy of Pediatrics suggests that prenatal ultrasound has no role in diagnosing FAS, and diagnosis is entirely postnatal, requiring direct physical examination with standardized measurement tools for facial features, postnatal growth assessment, and comprehensive neurodevelopmental evaluation 1, 2, 3