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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].