PRENATAL SCREENING AND DIAGNOSTIC SYSTEM AND METHOD

摘要

Disclosed is prenatal screening and diagnostic system. The prenatal screening and diagnostic system includes a wet-laboratory arrangement for processing a blood sample to determine cell-free DNA readout data from the blood sample, and a data processing arrangement for processing the cell-free DNA readout data with reference to information stored in a database arrangement to generate a risk score indicative of whether or not there are genetic abnormalities in the blood sample that are indicative of fetal abnormalities or risk of developing abnormalities. The prenatal screening and diagnostic system is operable to ligate nucleic acid base molecular barcodes to fragments of the cell-free DNA present in the blood sample prior to amplifying the molecular barcode-ligated DNA fragments for sequencing the amplified molecular barcode-ligated fragments to generate the cell-free DNA readout data.