Cell Free DNA: From the Bench to the Bedside and back to the Bench

Since its discovery in 1997 by Dennis Lo and colleagues, cell-free fetal DNA in maternal plasma has rapidly become the method of choice for the non-invasive analysis of fetal genetic traits. Indeed, this method has proven to be particularly reliable for the detection of fetal loci completely absent from the maternal genome (almost 100% accuracy), that it is currently used clinically for the determination of fetal sex or Rhesus D status. A problem with these „1st generation“ tests is that they relied on the complete absence of the RhD gene in Rhd negative individuals, a constellation which is true for most Rhd Ca…