Program Operations Manual System (POMS)
TN 69 (12-23)
DI 23022.390 Edwards Syndrome (Trisomy 18)
COMPASSIONATE ALLOWANCES INFORMATION
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EDWARDS
SYNDROME (TRISOMY
18)
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ALTERNATENAMES
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Trisomy 18; Chromosome 18; Trisomy 18 Complete; Complete Trisomy 18 Syndrome; Trisomy
E Syndrome
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DESCRIPTION
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Edwards syndrome is a genetic disorder in which a person has an extra third copy (trisomy) of genetic
material from chromosome 18, instead of the usual two copies. This chromosomal condition
causes severe intellectual disability and congenital abnormalities. It severely affects
all organ systems of the body. Children born with Edwards syndrome often have intellectual
disability and delayed development, congenital heart disease, seizures, and physical
malformations. Associated conditions may include heart defects such as ventricular
septal defect and malformations of the digestive tract, urinary tract, and genitals.
Due to the presence of several life-threatening medical problems, many infants die
within their first month. This disorder is a relatively common syndrome affecting
approximately 1 out of 3,000 live births. It is three times more common in girls than
boys.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: The diagnosis of Edwards syndrome is made by genetic testing of the amniotic fluid;
ultrasounds of the heart and abdomen; and x-rays of the skeletal system.
Physical findings: Individuals with Edwards syndrome are characterized by:
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Clenched hands with second and fifth fingers on top of the others;
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Other defects of the hands and feet;
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Underdeveloped finger nails; and
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ICD-9: 758.2
ICD-10: Q91.3
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PROGRESSION
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Fifty percent of infants with this condition do not survive beyond the first week
of life. Some children have survived to teenage years, but with serious medical and
developmental problems.
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TREATMENT
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Treatment of Edwards syndrome consists of symptomatic and supportive care. Treatment
is dependent on the medical condition of the individual and the affected organ defects.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical history and examination that describes the diagnostic features of the impairment;
and
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Laboratory tests showing results of chorionic villus sampling (CVS).
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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110.08 A
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Equals
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*Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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