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Chromosomics: Detection of Numerical and Structural Alterations in All 24 Human Chromosomes Simultaneously Using a Novel OctoChrome FISH Assay
Published on: February 6, 2012
[Modern noninvasive methods for early detection of chromosome anomalies]
1Klinika za ginekologiju i akuserstvo, Medicinski fakultet, Novi Sad.
Abstract:
Chromosome abnormalities may be a major cause of perinatal death and handicaps, and that is why the most common indication for invasive prenatal diagnosis is the risk or suspicion that there are certain cytogenetic abnormalities. In order to determine high-risk women for invasive diagnosis, it is necessary to establish noninvasive screening methods which would be performed in a major part of pregnant population. This article reviews contemporary noninvasive methods for early detecting of certain chromosome abnormalities such as ultrasound and biochemical markers. Combined application of these methods enables detection of more than 80% of fetuses with chromosome anomalies in the second-trimester pregnancies.

