[The application of fetal nucleated red blood cells in the noninvasive prenatal testing for monogenic diseases].

Abstract

Fetal nucleated red blood cells (fNRBCs) in the peripheral blood of pregnant women which contain the complete genetic information of the fetus, emerge as the ideal cells for fetal genetic diseases screening and prediction. These cells have been proven useful for fetal sex identification and the detection of chromosomal aneuploidy. Given the strong heterogeneity and diverse mutation sites and types of monogenic diseases, several bottleneck issues, such as rare cell enrichment and sorting, cell origin identification, sequencing of minute amounts of DNA, and bioinformatics analysis, merits further investigation prior to utilizing fNRBCs for testing. Addressing these challenges can contribute to obtaining highly purified fetal cells, high-coverage, high-fidelity, and unbiased whole-genome amplification products, as well as accurate genetic mutation detection and analysis results. In light of the aforementioned issues, this article primarily focuses on the advancements and challenges in the non-invasive prenatal testing of monogenic diseases using fNRBCs.