JOURNAL OF
APPLIED GENETICS
        
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Journal of Applied Genetics 46(2), 2005, pp. 207-215

Molecular methods for rapid detection of aneuploidy

Lech Dudarewicz, Wolfgang Holzgreve, Anna Jeziorowska, Lucjusz Jakubowski, Bernhard Zimmermann


Abstract: Rapid molecular biological methods for prenatal diagnosis of the most common aneuploidies, collectively known as rapid aneuploidy testing, are compared in this review. We discuss methodological problems and limitations of these various methods. All these techniques are believed to be accurate and carry a low risk of misdiagnosis, but they differ in terms of labour-intensity and amenability to automation and high throughput testing. The question how to apply them safely and economically in a clinical setting has not been answered yet. The discussed techniques are so far not used as stand-alone tests, but some of them are routinely applied as a preliminary test that shortens the waiting time for classic cytogenetic karyotyping. In the future, mainly because of economical reasons, these methods may replace cytogenetics in the category of patients who make up the majority of those currently offered prenatal karyotyping: patients with moderately increased risk and no abnormalities detected by ultrasound.

Key words: aneuploidy, DNA analysis, fetus, non-invasive, PCR, prenatal diagnosis, screening.

Correspondence: L. Dudarewicz, Department of Medical Genetics, Polish Mother's Memorial Hospital, Research Institute, Rzgowska 281/289, 93-338 Lodz, Poland; e-mail: dudarew@yahoo.com

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