Fetal alcohol syndrome (FAS) cannot be diagnosed before birth. During pregnancy, signs of prenatal growth deficiency may be identified with an ultrasound, and prenatal cardiac problems may be identified with an echocardiogram (device using sound waves to create a moving image of the heart).

Parents who believe their child has FAS should contact their physician. Early diagnosis may help reduce long-term difficulties a child may face due to FAS (e.g., difficulty in school, problems with the law, substance abuse). A physician can identify special schools or community services that may help parents of children with FAS.

Parental concerns about FAS should be brought to the physician’s attention. A physician may take a detailed medical history to identify all potential health risks to the child. This may include questions about the mother’s alcohol consumption during pregnancy.

A physical examination of the child will be performed, including a search for signs of FAS. A physician may attempt to identify the extent of any deficiencies. This may include vision tests and hearing tests, as well as ultrasound examination of the heart and kidneys. Children suspected of having FAS may also undergo various tests to analyze intelligence and language capabilities. A mental health evaluation may also be performed to identify signs of mental health disorders (e.g., depression, anxiety, panic attacks, mood instability) that may accompany FAS.

In addition, a physician may attempt to rule out other potential causes for a child’s defects or deficiencies. A genetics specialist may be recommended to determine whether a hereditary condition exists that may explain a child’s symptoms.

To diagnose FAS, a physician must document:

• Presence of at least the following facial abnormalities:
  
  
• • Smooth philtrum (underdeveloped vertical groove between the nose and upper lip)
    
  • Significantly thin upper lip
    
  • Small eye openings
    
    
• Prenatal or postnatal height or weight deficiency
  
  
• Central nervous system abnormality that includes:
  
  
• • Structural defects (e.g., small head circumference); and
    
  • Neurologic defects (e.g., seizures, motor control difficulty); or
    
  • Functional defects (e.g., decreased IQ, delayed development)

Children who do not exhibit all signs necessary for a diagnosis of FAS may be identified as having another type of fetal alcohol spectrum disorder. However, because these usually do not include the distinctive physical features of FAS, they may go undiagnosed or misdiagnosed.