Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma

TLDR

Non‑invasive prenatal testing using maternal plasma PCR is used for fetal gender and RhD determination but is limited to paternally inherited or de novo disorders, and recent technical advances may broaden its applications. The study aims to assess whether a single‑gene cystic fibrosis mutation (Q890X) can be detected in maternal plasma. At 13 weeks gestation, DNA from maternal plasma was PCR‑amplified for Q890X and subjected to restriction analysis. The method successfully detected the paternal Q890X mutation in maternal plasma at 13 weeks, demonstrating that non‑invasive detection of inherited paternal cystic fibrosis mutations is feasible and could be useful for other dominant disorders. © 2002 John Wiley & Sons, Ltd.

Abstract

Abstract Objectives 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. Methods 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. Results We were able to detect the presence of the mutation and thus the fetal condition of being a carrier of the paternal mutation. Conclusions We have made evident the possibility of detecting an inherited paternal mutation in a non‐invasive way at the 13t hr weeks of pregnancy. This methodology could be very useful in cases of paternally inherited dominant disorders. The technical improvements in fetal DNA detection and analysis might lead to the development of new applications in the non‐invasive prenatal diagnosis field. Copyright © 2002 John Wiley & Sons, Ltd.