title: Investigation of the diagnostic value of chromosome analysis and bacterial artificial chromosome-based array comparative genomic hybridization in prenatal diagnosis.
abstract: OBJECTIVE
  To investigate the diagnostic value of bacterial artificial chromosome (BAC)-based array comparative genomic hybridization (CGH) and chromosome analysis in prenatal diagnosis.
  
  
  METHODS
  This study included the chromosome analysis and BAC-based array CGH analysis of 140 amniocentesis samples with prenatal diagnosis indications.
  
  
  RESULTS
  Karyotype analysis showed trisomy 21 in 4 patients, trisomy 18 in 5 patients, monosomy X in 1 patient, and other anomalies in 3 patients. The BAC-based array CGH analysis showed 4 patients with trisomy 21, 4 patients with trisomy 18, and 1 patient with monosomy X as a numerical chromosome anomaly, while partial duplication was observed in chromosome 14 in 1 case as a structural anomaly.
  
  
  CONCLUSIONS
  The array CGH is the most effective method available to complement cases where chromosome analysis, a gold standard in prenatal diagnosis, proves to be insufficient. Considering the inherent limitations of both methods, complementary features should be introduced in order to be able to give the most accurate data at the right time.
authors.forename: Hakan
authors.initials: H
authors.lastname: Savli
authors.forename: Seda Eren
authors.initials: SE
authors.lastname: Keskin
authors.forename: Naci
authors.initials: N
authors.lastname: Cine
mesh_terms: D000293:Adolescent; D000328:Adult; D002869:Chromosome Aberrations; D022202:Chromosomes, Artificial, Bacterial; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D007621:Karyotyping; D008875:Middle Aged; D011247:Pregnancy; D011296:Prenatal Diagnosis; D055815:Young Adult