Prenatal screening and diagnostic system and method

摘要

Described is a prenatal screening and diagnostic system. The prenatal screening and diagnostic system includes a wet-laboratory arrangement and a data processing arrangement. The data processing arrangement is operable to exchange instructions and data with the wet-laboratory arrangement. The data processing arrangement includes a database arrangement storing genetic information accessible to algorithms executable on the data processing arrangement. The wet-laboratory arrangement is operable to collect maternal blood samples from a pregnant mother and to identify free fetal DNA (ffDNA) fragments present in cell-free DNA (cfDNA) derived from plasma of the maternal blood sample, wherein the isolation utilizes baits or primers based upon coordinates of cell-free fetal DNA fragment preferred end-points; and the data processing arrangement is operable to analyse the identified free fetal DNA (ffDNA) and compare with one or more DNA templates stored in the data processing arrangement for determining occurrence of one or more biological characteristics of fetal DNA present in the maternal blood samples.