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Table 3 Guidelines for routine evaluation in children with trisomy 18 at time of diagnosis and during follow up

From: The trisomy 18 syndrome

Area of clinical evaluation Time Assessment
Growth and feeding every visit Use published growth curves, investigate need for enteral nutrition
Psychomotor and cognitive developmental progress every visit developmental delay and referral to early intervention program and PT/OT
Neurologic exam every visit muscular tone abnormalities, seizures, referral to neurology if needed
Cardiology and echocardiogram at birth/diagnosis – follow up as needed congenital heart defect, pulmonary hypertension
Abdominal ultrasound at birth/diagnosis - follow up as needed renal malformation
every 6 months until adolescence Wilms tumor and hepatoblastoma
Ophthalmology at birth/diagnosis eye malformations
older children photophobia and refractive defects, prescribe sunglasses as needed
Audiology at birth/diagnosis - follow up as needed sensorineural hearing loss
Orthopedic exam every visit in children older than 2 years scoliosis
Gastroenterology if needed gastroesophageal reflux, need of enteral nutrition
Pulmonology if needed recurrent pulmonary infections, central and obstructive apnea
Sleep study if needed central and obstructive apnea
  1. Adapted from Carey[12].