Whole chromosome trisomy, nonmosaicism (meiotic nondisjunction)
ICD-10 Q92.0 is a billable code used to indicate a diagnosis of whole chromosome trisomy, nonmosaicism (meiotic nondisjunction).
Whole chromosome trisomy, nonmosaicism, is a chromosomal abnormality characterized by the presence of an extra chromosome in all cells of an individual, resulting from meiotic nondisjunction during gamete formation. This condition leads to a total of three copies of a specific chromosome, which can significantly impact development and health. Common examples include trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome). The clinical manifestations vary widely depending on the specific chromosome involved, but may include developmental delays, congenital heart defects, and distinct physical features. Diagnosis is typically made through karyotyping, which reveals the chromosomal makeup of the individual. Management often involves a multidisciplinary approach, including pediatricians, geneticists, and specialists in various fields to address the complex needs of affected individuals. Early intervention and supportive care are crucial for improving outcomes and quality of life.
Detailed growth and developmental assessments, including milestones and any associated health issues.
Routine pediatric evaluations, referrals for developmental delays, and management of congenital heart defects.
Attention to the psychosocial aspects of care and family support needs.
Comprehensive family history, results of genetic counseling sessions, and detailed karyotype reports.
Prenatal genetic testing consultations and postnatal evaluations for chromosomal abnormalities.
Understanding the implications of genetic findings for family planning and potential recurrence risks.
Used to confirm diagnosis of trisomy.
Karyotype report detailing the chromosomal makeup.
Geneticists should ensure accurate interpretation of results.
Accurate coding for whole chromosome trisomy is crucial for appropriate patient management, resource allocation, and understanding the epidemiology of chromosomal abnormalities. It also aids in research and the development of targeted therapies.
