PCL 12 - Investigation and Diagnosis of Spina Bifida by Lovely Revathy and Nicole =D

Examination

· Examine the spine and note the site and size of any lesion. Look for any spinal deformity.
· Perform a complete neurological examination of the newborn. Document any neurological abnormalities. This will act as a baseline.
o Measure head circumference.
o Assess cry and sucking reflex.
o Assess anal sphincter.
o Examine urinary stream.
o Perform a full motor examination including assessment of muscle bulk, spontaneous active movements, muscle tone and movements in response to stimulation.
o Perform a full sensory examination.
· Look for foot and hip deformities.

Investigations
Pre-natal diagnosis
· Raised levels of maternal serum alpha feto-protein (AFP) at 16-18 weeks gestation are found in neural tube defects. AFP is a protein that’s produced by the fetus. It’s normal for a small amount of AFP to cross the placenta and enter the mother’s bloodstream, but abnormally high levels of AFP suggest that the fetus has neural tube defect.
· The 18-20 week fetal anomaly screening ultrasound scan also allows detection and diagnosis of neural tube defects and is much more specific. Rule out increased levels of AFP by more than one fetus and confirm gestational age.
· Amniocentesis - Measurement of amniotic fluid acetylcholinesterase can confirm the diagnosis. Performed between week 15 and 20 of pregnancy

Investigation of confirmed spina bifida
· Screening bloods can be carried out to detect any evidence of impairment of other organ systems, particularly renal impairment.
· Urine culture and urodynamics may be needed to detect any abnormality of the urinary tract caused by impaired bladder innervation.
· Latex allergy is relatively common among sufferers of spina bifida, probably due to inherent susceptibility and repeated exposure to surgical procedures. ELISA or skin-prick sensitivity testing may be needed to avoid illness caused by latex exposure. Up to 50% of children with myelomeningocele may be latex sensitive.
· Plain X-rays of the spine can help detect any associated scoliosis and hip dysplasia or dislocation.
· CT and/or MRI of the head and spinal cord may be conducted to look for evidence of the major complications of spina bifida such as:
o Hydrocephalus due to Arnold-Chiari II malformation.
o Tethering of the spinal cord by fibrous bands.
· Gait analysis may be needed to evaluate a patient's functional mobility and allow intervention to improve independent mobility through the use of orthoses or surgery.