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Maternal plasma and serum are being used to detect fetal DNA by PCR in order to determine certain conditions such as fetal gender and RhD without invasive procedures. Because of the presence of maternal DNA in plasma, these approaches are limited to paternally inherited disorders or those de novo present in the fetus. We have assessed the possibility of performing the detection of a single‐gene disorder such as a fetal paternally inherited Cystic Fibrosis mutation (Q890X) in maternal plasma.

The analysis was performed at 13 weeks of gestation using DNA extracted from maternal plasma. We used a PCR amplification of the Q890X mutation and a posterior restriction analysis of the PCR product.

We were able to detect the presence of the mutation and thus the fetal condition of being a carrier of the paternal mutation.

We have made evident the possibility of …