The role of comparative genomic hybridisation in prenatal diagnosis

BJOG. 2001 Jun;108(6):642-8. doi: 10.1111/j.1471-0528.2001.00139.x.


The aims of this study were to assess the feasibility of using comparative genomic hybridisation instead of conventional cytogenetics in prenatal diagnosis and to determine the size of DNA loss that can be detected. Using comparative genomic hybridisation, six cases with standard aneuploidies were diagnosed correctly. This technique clearly identified a partial duplication of the long arm of chromosome 1 but was not capable of detecting the associated inversion. A small interstitial deletion on short arm of chromosome 10 also was detected precisely. Although the current comparative genomic hybridisation resolution is similar to the sensitivity of the highest resolution G banding, the latter is not a routine strategy in prenatal diagnosis. Comparative genomic hybridisation can allow full chromosome assessment equal to the highest resolution cytogenetic studies without the need for cell culture.

Publication types

  • Comparative Study

MeSH terms

  • Cytogenetic Analysis / standards
  • DNA / analysis
  • Feasibility Studies
  • Female
  • Humans
  • Monosomy / diagnosis*
  • Nucleic Acid Hybridization / methods*
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Prenatal Diagnosis / standards
  • Sensitivity and Specificity
  • Trisomy / diagnosis*


  • DNA