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Circulating fetal cell-free DNA (cffDNA) is emerging as the most reliable known target for prenatal molecular diagnostics. Different points of view are expressed in literature regarding the safe use of cffDNA for all types of molecular tests, above all those used to detect maternal DNA rather than fetal mutation. The aim of the present study was therefore to achieve consensus on guidelines conducive to standardizing current procedures, which differ between laboratories, and to design stringent technical protocols for the analysis of cffDNA.

Circulating fetal cell-free DNA and prenatal molecular diagnostics: are we ready for consensus?