Investigations
1st investigations to order
facial photographic assessment
Test
There are no specific diagnostic tests; however, in a child with abnormal facial features, a digital photograph can be used in conjunction with facial diagnostic software to aid confirmation of the diagnosis.
Fetal alcohol syndrome (FAS) photographic diagnostic software assists the clinician to analyse a 2-dimensional facial photograph by enabling accurate measurement of the palpebral fissure length and calculating the percentile value for that parameter for age. FAS Diagnostic and Prevention Network: FAS facial software Opens in new window
Enables calculation of the upper-lip circularity (area) and assignment of severity of upper-lip and philtrum abnormality.[48]
This valuable and inexpensive diagnostic aid is simple to use, requiring only a digital camera and the computer software.
Stereo-image matching has been used for analysis of 3-dimensional (3-D) images to assist in the diagnosis of FAS.[53] In the future 3-D imaging may be increasingly valuable for screening and diagnosis.[49]
Result
short palpebral fissure, smooth philtrum (ranking 4 or 5), thin upper lip (ranking 4 or 5)
Investigations to consider
antenatal ultrasonography of fetus
Test
May be considered if there has been known heavy maternal intake of alcohol during pregnancy.
Result
intrauterine growth retardation, poor head growth, and/or specific birth defects in the fetus
ECG
Test
Ordered when a cardiac lesion is suspected. Cardiac anomalies include atrial septal defects, ventricular septal defects, aberrant great vessels, tetralogy of Fallot, and conotruncal defects.
Result
abnormalities of heart rate and rhythm, axis, and duration and size of QRS complexes
echocardiogram
Test
Ordered when a cardiac lesion is suspected, to detect structural abnormalities characteristic of atrial septal defects, ventricular septal defects, aberrant great vessels, tetralogy of Fallot, conotruncal defects, or valve lesions.
Result
cardiac structural abnormalities
EEG
Test
Ordered when a seizure disorder is suspected.
Result
abnormal
MRI/CT head
Test
Ordered when history and/or examination indicate microcephaly or suggest neurological dysfunction.
Result
abnormal CNS structures
renal ultrasonography
Test
Ordered when a renal lesion is suspected. Renal anomalies include aplastic, dysplastic, or hypoplastic kidneys; ureteral duplication; hydronephrosis; and horseshoe kidneys.
Result
renal anomalies
skeletal x-ray
Test
Ordered when a skeletal problem is suspected. Musculoskeletal anomalies include shortened fifth fingers, radioulnar synostosis, flexion contractures, camptodactyly, clinodactyly of the fifth finger, pectus excavatum or carinatum, Klippel-Feil syndrome, hemivertebrae, and scoliosis.
Result
musculoskeletal anomalies
screening blood tests
Test
Many clinicians perform routine screening tests (e.g., ferritin, thyroid function, serum lead, creatine kinase, and urine metabolic screen) to exclude common, treatable causes of developmental disorders.
Result
normal
chromosome microarray
Test
Genetic testing with chromosome microarray is indicated if a chromosomal and other genetic disorders. Fragile X should be excluded as a potential cause of neurodevelopmental impairment.
Result
no abnormality
Emerging tests
functional MRI
Test
May show altered activation patterns in regions associated with working memory in children with fetal alcohol spectrum disorders.[54]
Result
altered activation patterns
magnetic resonance spectroscopy
Test
There may be a correlation with increasing severity of 4-digit code FAS facial phenotype.[55]
Result
decreased choline in frontal white matter
3-dimensional facial imaging
Test
May provide enhanced understanding of fetal alcohol spectrum disorder (FASD) dysmorphology through 3-dimensional image analysis.
Result
identifies dysmorphic features
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