Getting a Fetal Alcohol Syndrome Diagnosis

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Fetal Alcohol Syndrome (FAS) is actually a number of related problems caused by prenatal exposure to alcohol. The syndrome can’t be diagnosed before the baby is born, so it’s important to let your physician know if you’ve had any alcoholic drinks during pregnancy. This allows the doctor to look for signs of FAS during the baby’s first few weeks of life. This can also reduce some of the problems associated with the condition. Before getting a Fetal Alcohol Syndrome diagnosis, your doctor will look at the child’s facial features, heart, hearing, vision, growth, cognitive function, language skills, motor skills and behavior.

Getting a Fetal Alcohol Syndrome Diagnosis: Rule Out Other Conditions
After the baby’s physician checks for symptoms of the disorder in the above mentioned areas, the child may be referred to a medical genetics specialist to rule out any other medical disorder that may cause the same symptoms. Once other conditions are ruled out, the child will be examined using a diagnostic system.

Diagnostic Systems for FAS
There are many diagnostic systems in the United States for Fetal Alcohol Syndrome. The Institute of Medicine created the first guidelines to standardize a diagnosis of FAS, while the University of Washington created the 4-Digit Diagnostic Code, which has 4 features of Fetal Alcohol Syndrome Disorders on a Likert scale. This scale of 1-4 has a total of 256 total descriptive codes with 22 different clinical categories. The general diagnostic tool for FAS, however, is the Centers for Disease Control’s FAS: Guidelines for Referral and Diagnosis.”

Who Performs the Diagnosis?
A diagnosis of Fetal Alcohol Syndrome requires an assessment of four important areas. These areas require a multi-disciplinary assessment, which means many medical professionals must work together to examine the child’s symptoms. A physician first looks for facial features common in FAS and growth deficiency. A psychological assessment is used to look for central nervous system abnormalities and neurological issues. Next, a neuropsychologist assess areas of language processing, sensorimotor and intellectual functioning. A psychologist or physician will also assess the risk of exposure to alcohol.

Criteria for a Fetal Alcohol Syndrome Diagnosis
These four criteria must be met for a diagnosis of Fetal Alcohol Syndrome:

1. Growth deficiency, which requires prenatal or postnatal weight and height at or below the 10th percentile measured on a standardized chart,
2. Fetal Alcohol Syndrome facial features, which requires all three FAS facial features are present,
3. Damage to the central nervous system, which includes significant functional, neurological or structural impairment, and
4. Prenatal exposure to alcohol, which may be confirmed or unknown. This is determined by either interviewing the child’s mother or family members who have knowledge of the mother’s alcohol use, as well as reviewing court records, birth records, prenatal health records and more. Exposure is then classified as confirmed exposure, unknown exposure or confirmed absence of exposure. Next, the confirmed exposure is classified as no risk, unknown risk, some risk and high risk.

Facial Features for a Diagnosis
There are three FAS facial features that must be present for a diagnosis. All three facial deformities increase in severity with increased prenatal exposure to alcohol.

1. Small palpebral fissures, which means the eye width is decreased with small eye openings,
2. Thin vermilion, which means the upper lip is thin, and
3. Smooth philtrum, which means the small groove between the upper lip and nose is flattened.