Diagnosing Fetal Alcohol Syndrome

Children who have been affected by prenatal exposure to alcohol due to their mother's drinking during pregnancy can develop a wide range of birth defects from mild to significant. These defects can include growth deficiency, facial anomalies (abnormalities) and central nervous system damage.

There are several different terms and diagnoses associated with the various levels of these alcohol-related birth defects which can be confusing even to those who work closely with these children. The following are some of those terms and the range of conditions they describe.

Pregnant woman drinking wine
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Fetal Alcohol Spectrum Disorders

Fetal alcohol spectrum disorders (FASD) is an overall term that refers to a large range of effects that can occur in a child whose mother drank alcohol during pregnancy, including physical, mental, behavioral and/or learning disabilities.

FASD is not intended to be a clinical diagnosis. It is an umbrella term used to include a number of diagnoses such as fetal alcohol syndrome, partial fetal alcohol syndrome, alcohol-related neurodevelopmental disorders, and others.

Fetal Alcohol Syndrome

Fetal alcohol syndrome (FAS) is a birth defect syndrome caused by maternal alcohol consumption during pregnancy. To be diagnosed with fetal alcohol syndrome, a child would meet all of the following criteria:

  • Growth deficiency.
  • A unique cluster of minor facial anomalies, such as small eyes, smooth philtrum (the vertical groove above the lips) and a thin upper lip.
  • Central nervous system damage (including structural, neurological, and/or functional impairment).
  • Prenatal alcohol exposure.

When the child has the classic facial anomalies, the other symptoms are usually present and significant and the child is diagnosed with fetal alcohol syndrome. When those facial anomalies are not present, the other symptoms can still be present and profound. That is when the terminology can get confusing.

Partial Fetal Alcohol Syndrome

This term is used when the child has most, but not all, of the growth deficiencies and/or the facial features of fetal alcohol syndrome, as well as the central nervous system damage and, of course, prenatal alcohol exposure.

Alcohol Related Neurodevelopmental Disorders

In 1996, the Institute of Medicine developed the diagnosis of alcohol related neurodevelopmental disorders (ARND) for children who exhibited central nervous system damage and who had prenatal alcohol exposure -- without the growth deficiencies or the facial features.

Fetal Alcohol Effects

At one time, this term was used to diagnose children who had some, but not all, of the symptoms of fetal alcohol syndrome. Since 1995, the term "fetal alcohol effects" fell out of favor because it implied a causal link between prenatal alcohol exposure and the child's symptoms that could not be confirmed.

Because many of the features associated with prenatal alcohol exposure also frequently occur in individuals with no prenatal alcohol exposure, clinicians began to drop diagnostic terms that suggested that alcohol exposure caused the effects, such as "fetal alcohol effects."

FASD 4-Digit Diagnostic Code

There have been several diagnostic systems developed to diagnose FASD. One of them, The Washington State FAS Diagnostic and Prevention Network is a method for diagnosing the full spectrum of outcomes of children with prenatal alcohol exposure. According to the network's website, the 4-digit diagnostic code, "provides accurate and reproducible diagnoses by quantitative, objective measurement scales and specific case-definitions."

Each of the four digits is used to rank the severity of the features of fetal alcohol syndrome in the following order: (1) growth deficiency, (2) the FAS facial features, (3) central nervous system damage or dysfunction, and (4) prenatal alcohol exposure.

Each feature is ranked from 1 to 4 on a scale with 1 being a complete absence of the fetal alcohol syndrome feature and 4 reflecting a strong "classic" presence of the feature.

For example, a 4-digit diagnosis of 3444 would indicate that the child had moderate growth deficiency, significant facial features, definite central nervous system damage, and high-risk prenatal alcohol exposure.

Static Encephalopathy (Alcohol Exposed)

This term was developed in 2002 and is used to refer to children who have structural, neurological and/or significant functional abnormalities to their central nervous system, but the abnormality is static -- neither progressing nor regressing.

Neurobehavioral Disorder (Alcohol Exposed)

Neurobehavioral disorder (alcohol exposed) is a diagnosis for children who have mild central nervous system functional impairment, but no evidence of structural or neurological abnormalities.

The Bottom Line on FAS

As you can see from the above descriptions, prenatal exposure to alcohol can cause a wide range of birth defects, from mild to severely debilitating. Fetal alcohol syndrome is the leading known cause of mental retardation and developmental disabilities and is entirely preventable.

Preventing fetal alcohol syndrome is simple. If you are planning to get pregnant, stop drinking. If you find out that you are pregnant, stop drinking immediately.

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