Molecular methods for rapid detection of aneuploidy

• Authors: L. Dudarewicz , W. Holzgreve , A. Jeziorowska , L. Jakubowski , B. Zimmermann
• Languages of publication: EN

Abstracts

EN

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.

Keywords

EN

ANEUPLOIDY; DIAGNOSIS; DNA ANALYSIS; FETUS; PCR

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2005
• Volume: 46
• Issue: 2
• Pages: 207-215

Contributors

author

L. Dudarewicz

author

W. Holzgreve

author

A. Jeziorowska

author

L. Jakubowski

author

B. Zimmermann

• Document Type: REVIEW
• Publication order reference: L. Dudarewicz, Department of Medical Genetics, Polish Mother?s Memorial Hospital, Research Institute, Rzgowska 281/289, 93-338 Lodz, Poland