Trisomy 18 Follow-up

Updated: Aug 13, 2020
  • Author: Mithilesh Kumar Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK); Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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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


Further Inpatient Care

See the list below:

  • 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.


Inpatient & Outpatient Medications

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



See the list below:

  • 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.



See the list below:

  • 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. [40]

    • 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.


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