Trisomy 13, nonmosaicism (meiotic nondisjunction)
ICD-10 Q91.4 is a billable code used to indicate a diagnosis of trisomy 13, nonmosaicism (meiotic nondisjunction).
Trisomy 13, also known as Patau syndrome, is a chromosomal abnormality characterized by the presence of an extra 13th chromosome due to meiotic nondisjunction. This condition leads to severe developmental and physical abnormalities. Infants with Trisomy 13 often present with multiple congenital malformations, including holoprosencephaly, cleft lip and/or palate, polydactyly, and cardiac defects. The severity of the condition varies, but many affected infants have a significantly reduced life expectancy, often not surviving beyond the first year of life. Diagnosis is typically made through karyotyping, which reveals the presence of three copies of chromosome 13. Clinical management focuses on supportive care and addressing specific congenital anomalies. Genetic counseling is essential for families, as the recurrence risk for future pregnancies may be influenced by maternal age and other factors.
Detailed records of physical examinations, developmental assessments, and any surgical interventions.
Management of infants with congenital heart defects or feeding difficulties due to cleft lip/palate.
Pediatric coders must ensure that all congenital anomalies are documented to support the complexity of care provided.
Karyotype results, family history, and genetic counseling notes.
Prenatal diagnosis and postnatal genetic counseling for families with a history of chromosomal abnormalities.
Genetic coders should focus on the implications of the diagnosis for future pregnancies and the need for comprehensive genetic counseling.
Used for confirming diagnosis of Trisomy 13.
Karyotype report and clinical indication for testing.
Genetic specialists must ensure accurate interpretation of results.
Infants with Trisomy 13 often face severe health challenges and have a high mortality rate, with many not surviving beyond the first year. Supportive care and management of specific anomalies are crucial.
