Abstract:

Prenatal diagnosis plays key roles in prevention of birth defects and enhancement of population quality. Prenatal molecular diagnosis can significantly improve the detection sensitivity and specificity of genetic and congenital abnormalities in fetus from all risk groups of pregnancy. Fluorescence in situ hybridization, quantitative fluorescent PCR, and multiple ligation-dependent probe amplification are routinely applied in prenatal molecular diagnosis. In recent years, chromosomal microarray analysis and next generation sequencing are remodeling the landscape of prenatal diagnosis, and have the potential to be the first-tier prenatal testing in near future. Integrating high through-put genomic assays into prenatal molecular diagnosis will promote the healthy development of prenatal diagnosis.

Key words: Prenatal diagnosis, Molecular diagnosis, Cell-free fetal DNA