title: Dilemmas in Prenatal Chromosomal Diagnosis Revealed Through a Single Center's 30 Years' Experience and 90,000 Cases.
abstract: BACKGROUND
  The aim of this article is to provide a perspective of prenatal chromosomal diagnosis (PCD) derived from a single center's evolving experience from ∼90,000 consecutive prenatal cases and to highlight important issues and current dilemmas.
  
  
  METHODS
  Prenatal cases in this study (1985-2013) were referred for various indications, and PCD was performed by standard karyotype in 84,255 cases, multiplex ligation-dependent probe amplification (MLPA) panel in 3,010 cases and standalone array comparative genomic hybridization (aCGH) in 3,122 cases.
  
  
  RESULTS
  Classic karyotype revealed 1.7 and 7.9% of pathological cases in amniotic fluid and CVS samples, respectively, with common aneuploidies accounting for 59.6 and 64.3% of the total abnormal. Molecular approaches increased the diagnostic yield by 0.6% for MLPA and 1.6% for aCGH, uncovering pathogenic chromosomal abnormalities undetectable by karyotype analysis.
  
  
  CONCLUSIONS
  Current molecular diagnostic capabilities and the recent introduction of noninvasive prenatal testing (NIPT) point to one current major dilemma in PCD, with serious implications in genetic counseling, relating on the one hand to reaping the benefits from the high detection rate afforded through aCGH but accepting an invasive risk, and on the other hand, offering a lower detection rate practically only for Down syndrome, with minimal invasive risk.
authors: Department of Molecular Genetics and Genomics, InterGenetics - Diagnostic Genetic Centre, Athens, Greece.
authors: Christopher
authors: C
authors: Konialis
authors: Constantinos
authors: C
authors: Pangalos
mesh_terms: D000328:Adult; D000782:Aneuploidy; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D059785:Karyotype; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis