Trisomy 18, nonmosaicism (meiotic nondisjunction)
ICD-10 Q91.0 is a billable code used to indicate a diagnosis of trisomy 18, nonmosaicism (meiotic nondisjunction).
Trisomy 18, also known as Edwards syndrome, is a chromosomal abnormality characterized by the presence of an extra 18th chromosome due to meiotic nondisjunction. This condition leads to severe developmental delays and multiple congenital malformations. Infants with Trisomy 18 often present with a distinct set of physical features, including a small head (microcephaly), a prominent occiput, low-set ears, and clenched fists with overlapping fingers. Other common anomalies include congenital heart defects, kidney abnormalities, and gastrointestinal issues. The prognosis for infants with Trisomy 18 is poor, with many not surviving beyond the first year of life. Diagnosis is typically made through karyotyping, which confirms the presence of the extra chromosome. Genetic counseling is essential for families affected by this condition, as it provides information on recurrence risks and management options.
Detailed clinical notes on physical examination findings, growth parameters, and developmental milestones.
Management of infants with Trisomy 18 in NICU, including feeding difficulties and respiratory support.
Attention to the psychosocial aspects of care for families, including end-of-life discussions.
Comprehensive genetic testing results, family history, and counseling session notes.
Prenatal diagnosis of Trisomy 18 through amniocentesis or chorionic villus sampling.
Understanding of recurrence risks and implications for future pregnancies.
Used to confirm diagnosis of Trisomy 18.
Document the indication for testing and results.
Geneticists should ensure comprehensive family history is included.
The prognosis for children with Trisomy 18 is generally poor, with many not surviving past the first year of life. Those who do survive often face significant developmental challenges and require ongoing medical care.
Trisomy 18 is diagnosed through karyotyping, which analyzes the chromosomes in a sample of blood or tissue to confirm the presence of an extra 18th chromosome.
