Hoyme et al reported criteria for evaluating a pediatric patient for features of the Fetal Alcohol Spectrum Disorders. which includes alcohol-related birth defects. The authors are from multiple institutions in the United States and South Africa.
Patient selection: child being evaluated for a fetal alcohol spectrum disorder (FASD)
Criteria for a diagnosis of alcohol-related birth defects (ARBD) - both of the following:
(1) documented alcohol exposure of the mother during the pregnancy.
(2) one or more major malformations associated with alcohol exposure
Exclusion of any disorder that can explain the malformation(s) better might be added to avoid a false-positive diagnosis.
Major malformations associated with alcohol exposure:
(1) atrial septal defect
(2) aberrant great vessels
(3) ventricular septal defect
(4) conotruncal heart defect
(5) radioulnar synostosis
(6) vertebral segmentation defects
(7) large joint contractures
(8) scoliosis
(9) aplastic, hypoplastic or dysplastic kidneys
(10) horseshoe kidney
(11) ureteral duplications
(12) strabismus
(13) ptosis
(14) retinal vascular anomalies
(15) optic nerve hypoplasia
(16) hearing loss (conductive, neurosensory)
