title: Combined use of cytogenetic and molecular methods in prenatal diagnostics of chromosomal abnormalities.
abstract: OBJECTIVE
  The aim of prenatal diagnostics is to provide information of the genetic abnormalities of the fetus early enough for the termination of pregnancy to be possible. Chromosomal abnormalities can be detected in an unborn child through the use of cytogenetic, molecular- cytogenetic and molecular methods. In between them, central spot is still occupied by cytogenetic methods. In cases where use of such methods is not informative enough, one or more molecular cytogenetic methods can be used for further clarification. Combined use of the mentioned methods improves the quality of the final findings in the diagnostics of chromosomal abnormalities, with classical cytogenetic methods still occupying the central spot.
  
  
  METHODS
  Conducted research represent retrospective-prospective study of a four year period, from 2008 through 2011. In the period stated, 1319 karyotyping from amniotic fluid were conducted, along with 146 FISH analysis.
  
  
  RESULTS
  Karyotyping had detected 20 numerical and 18 structural aberrations in that period. Most common observed numerical aberration were Down syndrome (75%), Klinefelter syndrome (10%), Edwards syndrome, double Y syndrome and triploidy (5% each). Within observed structural aberrations more common were balanced chromosomal aberrations then non balanced ones. Most common balanced structural aberrations were as follows: reciprocal translocations (60%), Robertson translocations (13.3%), chromosomal inversions, duplications and balanced de novo chromosomal rearrangements (6.6% each).
  
  
  CONCLUSIONS
  With non- balanced aberrations observed in the samples of amniotic fluid, non- balanced translocations, deletions and derived chromosomes were equally represented. Number of detected aneuploidies with FISH, prior to obtaining results with karyotyping, were 6.
authors.affiliation: Clinical Pathology, Clinical Centre, University of Sarajevo, Bosnia and Herzegovina.
authors.forename: Meliha
authors.initials: M
authors.lastname: Stomornjak-Vukadin
authors.affiliation: Clinical Pathology, Clinical Centre, University of Sarajevo, Bosnia and Herzegovina.
authors.forename: Ilvana
authors.initials: I
authors.lastname: Kurtovic-Basic
authors.affiliation: Clinical Pathology, Clinical Centre, University of Sarajevo, Bosnia and Herzegovina.
authors.forename: Lejla
authors.initials: L
authors.lastname: Mehinovic
authors.affiliation: Clinical Pathology, Clinical Centre, University of Sarajevo, Bosnia and Herzegovina.
authors.forename: Rijad
authors.initials: R
authors.lastname: Konjhodzic
keywords: FISH; G bending; amniotic fluid; karyotype