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. 2015 Apr;23(2):68-72.
doi: 10.5455/aim.2015.23.68-72. Epub 2015 Apr 14.

Combined use of cytogenetic and molecular methods in prenatal diagnostics of chromosomal abnormalities

Meliha Stomornjak-Vukadin  1 , Ilvana Kurtovic-Basic  1 , Lejla Mehinovic  1 , Rijad Konjhodzic  1
Affiliations

Combined use of cytogenetic and molecular methods in prenatal diagnostics of chromosomal abnormalities

Meliha Stomornjak-Vukadin et al. Acta Inform Med. 2015 Apr.

Abstract

Aim: 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.

Material and 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).

Conclusion: 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.

Keywords: FISH; G bending; amniotic fluid; karyotype.

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Conflict of interest statement

CONFLICT OF INTEREST: NONE DECLARED.

Figures

Figure 1
Figure 1
Distribution of individual numerical chromosomal aberrations in the analyzed samples of amniotic fluid
Figure 2
Figure 2
Distribution of individual structural chromosomal aberrations in the analyzed samples of amniotic fluid
Figure 3
Figure 3
Share of aberrant karyotypes in the analyzed samples of amniotic fluid
See this image and copyright information in PMC

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