Advances in rapid prenatal detection of fetal chromosome abnormalities / 中华男科学杂志

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.