Investigations
1st investigations to order
audiogram
Test
All newborns with oro-facial clefting receive a hearing screening test to assess for the presence of associated hearing loss. A complete audiological evaluation is indicated in children whose screening audiogram is abnormal.[40]
Result
hearing loss
genetics consult
Test
Recommended for all infants with isolated cleft palate for detection of associated syndromic features.
Result
variable
Investigations to consider
auditory brain stem response (ABR) test
Test
Undertaken if the audiogram is inconclusive, to assess for the presence of associated hearing loss.
Result
sensorineural hearing loss
vertebral spine x-rays
Test
Requested if hemifacial microsomia is present.
Result
hemivertebrae or other spine abnormality associated with hemifacial microsomia
renal ultrasound
Test
Requested if hemifacial microsomia is present.
Result
congenital malformation of urogenital tract associated with hemifacial microsomia
fluorescence in situ hybridisation (FISH)
Test
Undertaken in order to detect the presence of a genetic disorder (e.g., velocardiofacial syndrome, which results from a micro-deletion of 22q11.2, in infants with isolated cleft palate).
Result
chromosomal abnormality in associated genetic disorder
ophthalmic examination
Test
Ophthalmological consultation for identification of Stickler syndrome is undertaken in infants with Pierre Robin sequence.
Result
variable
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