Table 3.

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

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

Adapted from Carey [12].