SNP-Based Fetal DNA Detection in Maternal Serum Using the HID-Ion AmpliSeq™ Identity Panel

Abstract

Cell-free fetal DNA (fDNA) in maternal serum generally exists in fragments of shorter lengths than fragments derived from the mother [1] and makes up 11.0%13.4% of the total plasma cell-free DNA depending on gestational age [2]. Working with such minute quantities of DNA can be challenging for clinical DNA profiling. The feasibility of using massively parallel sequencing (MPS) for fDNA profiling with high enough sensitivity to diagnose aneuploidy, subchromosomal aberrations, and monogenic disorders has recently been demonstrated [3]. Single nucleotide polymorphism (SNP) panels have great potential for use in fDNA profiling by allowing analysis of fragmented DNA or low copynumber templates, particularly with MPS technology. The HID-Ion AmpliSeq Identity Panel consisting of 124 SNPs is a commercial system developed for human Korean J Leg Med 2017;41:41-45 https://doi.org/10.7580/kjlm.2017.41.2.41