Trisomy 18, translocation
ICD-10 Q91.2 is a billable code used to indicate a diagnosis of trisomy 18, translocation.
Trisomy 18, also known as Edwards syndrome, is a chromosomal abnormality characterized by the presence of an extra 18th chromosome. In cases classified under Q91.2, this extra chromosome arises from a translocation event, where a segment of chromosome 18 is attached to another chromosome. This condition leads to severe developmental delays, multiple congenital malformations, and a high mortality rate, particularly in the neonatal period. Common physical features include a small head, a prominent back of the head, low-set ears, clenched fists, and overlapping fingers. Internal organ anomalies are also prevalent, including heart defects and kidney malformations. The severity of symptoms can vary significantly among affected individuals, and while some may survive beyond infancy, many do not live past their first year. Genetic counseling is crucial for families affected by this condition, as it provides information on recurrence risks and management options. Accurate coding of Trisomy 18, translocation is essential for appropriate clinical management and resource allocation.
Pediatric documentation must include detailed growth and developmental assessments, descriptions of physical findings, and any interventions or treatments provided.
Common scenarios include newborn assessments in the NICU, follow-up visits for developmental milestones, and management of associated congenital anomalies.
Pediatric coders should be aware of the need for comprehensive documentation that reflects the multidisciplinary approach often required for these patients.
Genetic documentation should include results from karyotyping, family history, and any genetic counseling sessions conducted.
Scenarios often involve prenatal genetic testing, postnatal diagnosis, and counseling for families regarding recurrence risks.
Genetic coders must ensure that all genetic testing results are accurately reflected in the medical record to support the diagnosis.
Used for confirming the diagnosis of Trisomy 18 through genetic testing.
Documentation must include the reason for testing and results.
Genetic specialists should ensure that all relevant family history is documented.
Coding Q91.2 is crucial for identifying patients with Trisomy 18, which allows for appropriate clinical management, resource allocation, and research into the condition. Accurate coding also supports genetic counseling and family planning discussions.
