Chromosomal Microarray Reinterpretation: Applications to Pediatric Practice

J Pediatr. 2022 Apr:243:219-223. doi: 10.1016/j.jpeds.2021.12.036. Epub 2021 Dec 23.

Abstract

Chromosomal microarray analysis (CMA) frequently yields inconclusive results. We reexamined inconclusive CMA results from 33 previously tested patients and reached a definitive diagnosis in 3 (9.1%) and identified the need for additional testing in 4 (12.1%). Reinterpretation may resolve inconclusive CMA results.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Aberrations
  • Chromosomes*
  • Female
  • Humans
  • Microarray Analysis / methods
  • Pregnancy
  • Prenatal Diagnosis* / methods