Trisomy 18 Follow-up

Updated: Sep 25, 2018
  • Author: Mithilesh K Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK); Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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Follow-up

Further Outpatient Care

See the list below:

  • Nasogastric or gastrostomy feeding

  • Orthopedic care of clubfoot in addition to scoliosis

  • Abdominal ultrasonographic surveillance recommendations is important in survivors to detect nephroblastoma/Wilms and hepatoblastoma not only in full trisomy 18 patients, but also in those with select 18q duplication. [36]

  • Audiologic evaluation for hearing loss

  • Apnea monitoring

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Further Inpatient Care

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  • If the parents decide to proceed with cardiac management for patients with trisomy 18 and depending on the lesion, treatment is typically be surgical rather than medical.

  • Provide gastrostomy for feeding problems.

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Inpatient & Outpatient Medications

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  • Diuretics and digoxin may be used for management of congestive heart failure secondary to congenital heart defect.

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Complications

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  • Infection is an ongoing medical concern. Infections are usually secondary to otitis media, upper respiratory tract infections, and urinary tract infections.

  • Scoliosis secondary to hemivertebra is a common finding.

  • Feeding problems are a major management issue.

  • Congenital heart defect with congestive heart failure is a frequent cause of death.

  • Wilms tumor and hepatoblastoma may develop in survivors with trisomy 18 and some patients with 18q duplication.

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Prognosis

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  • A small number of children with trisomy 18 survive beyond the first year, and few live into their teens and twenties. Survival rates for Edwards syndrome are as follows:

    • Newborns have a 40% chance of surviving to age 1 month. [39]

    • Infants have a 5% chance of surviving to age 1 year.

    • Children have a 1% chance of surviving to age 10 years.

  • The high mortality rate is due to congenital heart malformations, GI and genitourinary anomalies, feeding difficulties, and associated CNS defects that produce central apnea.

  • Although they function with severe handicaps, all older children with trisomy 18 smile, laugh, interact, relate to their families, and achieve some psychomotor maturation.

  • Mosaic cases may show milder phenotypic expression and prolonged survival.

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Patient Education

The pediatrician has the challenge and the opportunity of helping the family face uncertainty regarding death and prepare for the possibility of caring for a significantly disabled child.

The following resources are available to help parents.

Support Organization for Trisomy 18, 13 and Related Disorders (SOFT)

2982 South Union Street

Rochester, NY 14624

Phone: (800) 716-SOFT (7638)

National Organization for Rare Disorders, Inc (NORD)

55 Kenosia Avenue

Danbury, CT 06810

Phone: (203) 744-0100

Fax: (203) 798-2291

Trisomy 18 Foundation

173 Keith Street

Number 3

Warrenton, VA 20186

Phone: (810) 867-4211

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