Trisomy 13, translocation
ICD-10 Q91.6 is a billable code used to indicate a diagnosis of trisomy 13, translocation.
Trisomy 13, also known as Patau syndrome, is a severe genetic disorder caused by the presence of an extra chromosome 13. In the case of translocation trisomy 13, the extra chromosome is not an independent chromosome but is attached to another chromosome due to a chromosomal rearrangement. This condition leads to a range of congenital malformations, including severe intellectual disability, heart defects, and various physical abnormalities such as cleft lip and palate, polydactyly, and microcephaly. The prognosis for infants with trisomy 13 is generally poor, with many not surviving past the first year of life. Diagnosis is typically made through karyotyping, which reveals the chromosomal abnormality. Genetic counseling is crucial for families affected by this condition, as it can provide insights into recurrence risks and management options. The complexity of managing trisomy 13, particularly in cases of translocation, requires a multidisciplinary approach involving pediatricians, geneticists, and other specialists.
Detailed clinical notes on physical examination findings, developmental assessments, and any interventions performed.
Management of infants with trisomy 13 in NICU, follow-up visits for developmental milestones, and coordination of care for associated anomalies.
Pediatric coders must ensure accurate coding of all congenital anomalies present and their management.
Comprehensive genetic testing reports, family pedigree charts, and notes from genetic counseling sessions.
Prenatal diagnosis discussions, postnatal genetic evaluations, and counseling for families regarding recurrence risks.
Genetic coders must be aware of the implications of translocation and its inheritance patterns.
Used for confirming diagnosis of trisomy 13 through genetic testing.
Documentation of clinical indications for testing and results.
Geneticists must ensure accurate interpretation of karyotype results.
Translocation in trisomy 13 indicates that the extra chromosome is attached to another chromosome, which can affect inheritance patterns and recurrence risks. Genetic counseling is essential for families to understand these implications.
