Fetal Alcohol Syndrome Workup

Updated: Feb 03, 2023
  • Author: Keith K Vaux, MD; Chief Editor: Santina A Zanelli, MD  more...
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Laboratory Studies

In patients with suspected fetal alcohol syndrome (FAS), consider chromosomal analysis to rule out unbalanced translocations or visible deletions. Also consider fluorescent in-situ hybridization (FISH) of 22q11 region to rule out deletion.


Imaging Studies

Multiple studies have demonstrated that prenatal exposure to alcohol causes permanent structural alterations to the brain, [20] especially in the parietal lobe, cerebellar vermis, corpus callosum, and caudate nucleus, as well as aberrations of growth in the frontal lobes compared to age-matched and sex-matched controls. However, each study has significant limitations, specifically study size and control ascertain.

Similarly, normative values for size, growth rates, and volumes of these regions have not been delineated; therefore, routine use of magnetic resonance imaging (MRI) is usually not warranted. [21]

The advent of optical coherence tomography (OCT) shows promise as a preliminary screening tool for rapidly phenotyping and quantifying congenital heart defects associated with prenatal alcohol exposure. [22] In 3-dimensional (3-D) avian embryo heart models of fetal alcohol syndrome, OCT was able to identify embryonic structures and cardiac anomalies (eg, ventricular septal defects, missing/misaligned vessels) in high resolution. [22]

Diffusion tensor imaging (DTI) and tractography (DTI-tractography) also shows promise in evaluating the effects of prenatal alcohol exposure on the brain structure of newborns. [13] When DTI-tractography was used to analyze white matter development in 11 newborns whose mothers drank alcohol during pregnancy compared to 9 age- and community-matched controls whose mothers either drank lightly or did not drink alcohol during pregnancy, the strongest white matter network association found with maternal drinking was axial diffusivity, with the strongest relations in the medial and inferior white matter. The investigators did not find a consistent and significant relation between fractional anisotropy and alcohol exposure, which differs from findings in older individuals who were prenatally exposed to alcohol. [13]