Prenatal screening and diagnosis in the era of cytomolecular genetics

Great efforts have been made in the prenatal screening and prenatal diagnosis of aneuploidy in China.Nevertheless, the coverage percentage of screening is still low, and the capability of diagnosis is far from enough.To elevate the efficacy of prenatal screening, developing fast aneuploidy diagnositic techniques is quite important.Cell-free DNA testing is believed to be a confirmatory screening test of aneuploidy.Fluorescence in situ hybridization, fluorescence quantitative PCR might be used in the prenatal diagnosis in high risk women. Chromosomal microarray analysis has high sensitivity in the diagnosis of microdeletion and microduplication.The era of cytomolecular diagnosis is coming.（Chin J Lab Med,2014,37:245-247） Key words: Prenatal diagnosis; Molecular diagnostic techniques; Genetic screening