A major challenge for cell-based non-invasive prenatal testing (NIPT) is to distinguish individual presumptive fetal cells from maternal in female pregnancies. We have sought a rapid, robust, versatile, and low-cost next-generation sequencing method facilitate this process. Toward goal, single isolated underwent whole genome amplification prior genotyping. Multiple highly polymorphic genomic re...

Non-invasive prenatal testing is regularly used to screen for aneuploidies and Rhesus status of a fetus. Since 1997 when free fetal DNA (ffDNA) in the maternal circulation was first identified, it has been hypothesized that may be possible use non-invasive (NIPT) identify high-risk pregnancies including pre-eclampsia, growth restriction preterm birth. then there much interest this area as way u...

Abstract Background This paper describes the clinical practice and performance of cell-free DNA sequencing-based non-invasive prenatal testing (NIPT) as a screening method for fetal trisomy 21, 18, 13 (T21, T18, T13) sex chromosome aneuploidies (SCA) in general Italian pregnancy population. Methods The AMES-accredited laboratory offers NIPT maternal blood test T21, T13 SCA. Samples were sequenc...