Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex.

Background: There is great need for the development of highly accurate cost effective technologies that could facilitate the widespread adoption of noninvasive prenatal testing (NIPT).

Methods: We developed an assay based on the targeted analysis of cell-free DNA for the detection of fetal aneuploidies of chromosomes 21, 18, and 13. This method enabled the capture and analysis of selected genomic regions of interest.

Effectiveness of strict anti-contamination criteria for non-invasive foetal sex determination in a clinical setting.

Objective: The aim of this study is to prevent false positive results in non-invasive foetal sex determination from pregnant women's plasma following strict anti-contamination criteria.

Methods: cffDNA from 200 pregnant women (mean gestational age of 8.3 ± 0.