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Updated: Jul 3, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
[The results of cytogenetic analyses in prenatal diagnosis]
Jadranka Jovanović-Privrodski1, Ivana Kavecan, Aleksandar Krstić
1Centar za medicinsku genetiku, Institut za zdravstvenu zastitu dece i omladine Vojvodine, Novi Sad.
Introduction:
G-banding and other classical cytogenetic methods are still in use, together with molecular cytogenetic techniques such as FISH (Fluorescence In Situ Hybridization) and SKY (Spectral Karyotyping).
Material And Methods:
This retrospective study evaluated clinical data on individuaols seeking genetic counseling over a 15-year period (1992 - 2007) at the Medical Genetic Center, Child and Youth Health Care Institute of Vojvodina in Novi Sad. The study included 37.191 genetic counselings, and 20.607 prenatal analyses (amniocentesis and cordocentesis).
Results:
Over a 15-year period (1992 - 2007) 17.937 amniotic fluid samples were analyzed and 274 abnormal karyotypes were found; out of 2.670 fetal blood samples, there were 78 abnormal karyotypes. During a 15-year period, prenatal diagnosis, using amniocentesis and/or cordocentesis, showed 352 fetuses with chromosomal aberrations.
Discussion:
On average, over the past 15-year period, 8% of pregnancies were controlled with invasive prenatal procedures. The percentage has changed; in fact, it is increasing from year to year. In 1992, only 0.82% (N=139/17000) of pregnant women in Vojvodina underwent invasive prenatal procedures, and in 2006 the rate increased to 15.65% (N=2660/17000).
Conclusion:
It is necessary to improve and promote the possibilities of genetic counseling and invasive prenatal diagnosis in order to prevent the occurrence of chromosomal aberrations and other genetic diseases.
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