pediatrics
Trisomy 18
Treatment of Trisomy 18
Supportive care The underlying genetic abnormality cannot be cured. Children with trisomy 18 have marked developmental delay and disability, so there is controversy about doing multiple, invasive procedures to correct various associated anomalies. Early referral for physical and speech therapy is important. Support for the family is critical. Treatment of some of the associated anomalies has increased survival for certain people with trisomy 18, which has led to recognition of an increased risk of solid organ tumors (eg, Hepatoblastoma , If screening detects abnormalities, children should be referred to the appropriate specialists. Time Period Time Period Surveillance Recommendations Surveillance Recommendations Prenatal Ultrasonography at 19 weeks gestation Fetal echocardiography considered if known trisomy 18 diagnosis or abnormal ultrasound Postnatal Physical examination for external anomalies Complete blood count with differential Echocardiography Total abdominal ultrasonography, including urinary system (48–72 hours after birth)*,† Cranial ultrasonography and/or MRI Early screening by pediatric ophthalmologist Airway assessment, possibly including sleep study Baseline serum AFP level 0–12 months of age Total abdominal ultrasonography at 3, 6, 9, and 12 months of age Serum AFP levels at 3, 6, 9, and 12 months of age Frequent feeding assessments Audiology examination at 6–8 months of age Dental screening 1–4 years of age Annual ophthalmologic evaluation After 2 years of age, annual orthopedic examination and spinal x-rays Serum AFP levels every 3–4 months Abdominal ultrasonography every 3 months until 4 years of age Dental evaluation every 6 months 4–7 years of age Annual ophthalmologic evaluation Annual orthopedic examination and spinal x-rays Abdominal ultrasonography every 6 months Renal ultrasonography every 3 months until 7 years of age Dental evaluation every 6 months 7–12 years of age Annual ophthalmologic evaluation Annual orthopedic examination Abdominal ultrasonography every 6 months until 12 years of age Puberty Clinical evaluation for seizures, behavioral changes, and normal sexual development, including menses in females‡ ≥ 12 years of age Annual ophthalmologic evaluation Annual orthopedic examination * If prenatal ultrasound showed or suggested hydronephrosis but postnatal ultrasound was normal, renal ultrasonography is done at 4 to 6 weeks of age. † If urinary system anomalies are present on initial or subsequent ultrasonography, voiding cystourethrography is typically done. ‡ Risk of primary or secondary amenorrhea. AFP = alpha-fetoprotein. Adapted fromKepple JW, Fishler KP, Peeples ES: Surveillance guidelines for children with trisomy 18.Am J Med Genet A185(4):1294–1303, 2021. doi: 10.1002/ajmg.a.62097 1.Kepple JW, Fishler KP, Peeples ES: Surveillance guidelines for children with trisomy 18.Am J Med Genet A185(4):1294–1303, 2021. doi: 10.1002/ajmg.a.62097 