Q91: Trisomy 18 and Trisomy 13

Q91 refers to Trisomy 18 and Trisomy 13, covering a range of chromosomal anomalies, such as trisomies, monosomies, deletions, and structural abnormalities, typically diagnosed prenatally or at birth.

Symptoms

• Intellectual disability – Common in Down syndrome (Q90)
• Congenital heart defects – Often present in Trisomy 18 and Trisomy 13 (Q91)
• Distinct facial features – Seen in many chromosomal abnormalities
• Short stature – Associated with Turner's syndrome (Q96)
• Infertility or delayed puberty – Typical in sex chromosome abnormalities (Q97–Q98)

Diagnosis

Diagnosis is made through prenatal screenings (e.g., nuchal translucency scan, cell-free DNA tests), amniocentesis, karyotyping, and postnatal chromosomal analysis to identify specific chromosomal abnormalities.

ICD10 Code Usage

ICD10 code Q91 is used extensively in prenatal care records, pediatric assessments, genetic counseling documentation, insurance claims, and research on chromosomal syndromes.

Related Codes

• Q90 – Down syndrome
• Q92 – Other trisomies and partial trisomies of the autosomes, not elsewhere classified
• Q93 – Monosomies and deletions from the autosomes, not elsewhere classified
• Q95 – Balanced rearrangements and structural markers, not elsewhere classified
• Q96 – Turner's syndrome
• Q97 – Other sex chromosome abnormalities, female phenotype, not elsewhere classified
• Q98 – Other sex chromosome abnormalities, male phenotype, not elsewhere classified
• Q99 – Other chromosome abnormalities, not elsewhere classified

FAQs

Q1: What is ICD10 code Q91?
A: It documents Trisomy 18 and Trisomy 13, referring to chromosomal abnormalities impacting physical, developmental, and cognitive outcomes.

Q2: Is Down syndrome genetic?
A: Yes, it is caused by an extra copy of chromosome 21.

Q3: What is the life expectancy for children with Trisomy 18?
A: Many affected infants have limited survival, although some live into adolescence with significant medical support.

Q4: Can chromosomal abnormalities be prevented?
A: No, but early diagnosis helps in planning appropriate care and interventions.

Q5: How is Turner's syndrome managed?
A: Management includes growth hormone therapy, estrogen replacement, and monitoring for associated health issues.

Conclusion

ICD10 code Q91 ensures comprehensive documentation of Trisomy 18 and Trisomy 13, aiding early detection, care planning, and improving outcomes for individuals with chromosomal disorders.