Advances in rapid prenatal detection of fetal chromosome abnormalities
WANG Jie
Abstract：Rapid prenatal detection methods,including molecular cytogenetic analysis and ultrasonographic markers,are very important for prenatal diagnosis.The use of molecular cytogenetic techniques has significantly improved the rapid detection of aneuploidy and identification of small structural abnormalities of fetal chromosomes.At present,commonly used molecular cytogenetic techniques include fluorescence in situ hybridization ( FISH ),quantitative fluorescence PCR ( QF-PCR ),multiplex ligation-dependent probe amplification (MLPA) and microarray-based comparative genomic hybridization (array CGH).There is extensive evidence that major chromosomal abnormalities can be effectively detected by ultrasonography in the first and second trimesters of pregnancy.So we can combine molecular cytogenetic techniques with ultrasonographic markers to improve the identification of aneuploidies for chromosomes and the accuracy of prenatal diagnosis,and to reduce birth defects in newborns.
Keywords：rapid prenatal detectionchromosomeultrasonographyfluorescence in situ hybridizationquantitative fluorescence PCRmultiplex ligation-dependent probe amplificationmicroarray-based comparative genomic hybridization
Publication Date：2010-04-02
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)