Further Outpatient Care
See the list below:
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Nasogastric or gastrostomy feeding
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Orthopedic care of clubfoot in addition to scoliosis
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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]
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Audiologic evaluation for hearing loss
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Apnea monitoring
Further Inpatient Care
See the list below:
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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.
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Provide gastrostomy for feeding problems.
Inpatient & Outpatient Medications
See the list below:
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Diuretics and digoxin may be used for management of congestive heart failure secondary to congenital heart defect.
Complications
See the list below:
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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.
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Scoliosis secondary to hemivertebra is a common finding.
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Feeding problems are a major management issue.
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Congenital heart defect with congestive heart failure is a frequent cause of death.
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Wilms tumor and hepatoblastoma may develop in survivors with trisomy 18 and some patients with 18q duplication.
Prognosis
See the list below:
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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.
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The high mortality rate is due to congenital heart malformations, GI and genitourinary anomalies, feeding difficulties, and associated CNS defects that produce central apnea.
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Although they function with severe handicaps, all older children with trisomy 18 smile, laugh, interact, relate to their families, and achieve some psychomotor maturation.
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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
173 Keith Street
Number 3
Warrenton, VA 20186
Phone: (810) 867-4211
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Note the microphthalmia, micrognathia/retrognathia, microstomia, low-set/malformed ears, short sternum, and abnormally clenched fingers in an infant with trisomy 18 (Edwards syndrome).
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This photo depicts the elongated skull, prominent occiput, low-set ear, micrognathia/retrognathia, short neck, and characteristic finger-grasping pattern in an infant with trisomy 18 (Edwards syndrome).
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Note the characteristic clenched hand of trisomy 18 (Edwards syndrome) with the index finger overriding the middle finger and the fifth finger overriding the fourth finger.
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This photo demonstrates a G-banded karyotype showing 47,XY,+18.
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Note the rocker-bottom foot with a prominent calcaneus in an infant with trisomy 18 (Edwards syndrome).
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This photo shows the hands of a fetus with trisomy 18 (Edwards syndrome). Note that hands typically present with overlapping digits, in which the second and fifth fingers override the third and fourth fingers, respectively. The overall posturing of the wrists and fingers in this fetus is suggestive of contractures.
