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

Prenat Diagn. 2002 Oct;22(10):946-8. doi: 10.1002/pd.439.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cystic Fibrosis / genetics*
  • DNA / blood*
  • DNA Mutational Analysis*
  • Electrophoresis, Polyacrylamide Gel
  • Female
  • Gestational Age
  • Humans
  • Male
  • Pedigree
  • Polymerase Chain Reaction
  • Pregnancy
  • Prenatal Diagnosis*


  • DNA