Fetal Alcohol Syndrome (cont.)

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How is the diagnosis of fetal alcohol syndrome made?

The diagnosis of FAS must be based on solid evidence. FAS is a diagnosis of great importance for the entire lifetime of the child, not to speak of its implications for the child's mother and other family members.

To establish a diagnosis of FAS, by convention, the following minimal criteria are met:

  1. small size and weight before and after birth (pre- and postnatal retardation)

  2. specific appearance of the head and face with at least two of the three following groups of signs: small head size (microcephaly), small eyes (microphthalmia) and/or short eye openings (palpebral fissures) and/or underdevelopment of the upper lip, indistinct groove between the lip and nose (the philtrum), and flattened cheekbones

  3. brain involvement with evidence for delay in development, intellectual impairment, or neurologic abnormalities

These criteria are used for the following reasons:

  1. FAS can be difficult to diagnose at and after birth.

  2. FAS can easily be confounded with many other disorders.

  3. There is no one clinical feature that specifically identifies FAS.

  4. There is no laboratory test to aid in the diagnosis.
Facial features associated with fetal alcohol syndrome
A characteristic pattern of mild facial anomalies associated with FAS include small eye openings, a thin upper lip, or flattened ridges between the base of the nose and the upper lip (a flattened philtrum).

SOURCE: Warren, K.R., and Foudin, L.L. Alcohol-related birth defects-the past, present, and future. Alcohol Research & Health 25(3):153-158, 2001. (Image from NIAAA)

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Fetal Alcohol Syndrome - Signs and Symptoms Question: Do you know someone affected by fetal alcohol syndrome? What were the first symptoms and signs of the condition?
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Fetal Alcohol Syndrome - Drinking While Pregnant Question: Did you or your mother drink during pregnancy? Please discuss any concerns, including the outcome.