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Related Experiment Videos

Recent developments in fetal DNA in maternal plasma.

Rossa W K Chiu1, Y M Dennis Lo

  • 1Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China.

Annals of the New York Academy of Sciences
|July 15, 2004
PubMed
Summary

Fetal DNA in maternal plasma aids prenatal diagnosis of genetic conditions. Epigenetic markers offer new potential beyond paternally inherited traits and quantitative aberrations.

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Area of Science:

  • Molecular Biology
  • Genetics
  • Obstetrics

Background:

  • Fetal DNA presence in maternal plasma is established.
  • Prenatal diagnosis has focused on autosomal dominant traits.
  • New methods enable autosomal recessive condition assessment.

Purpose of the Study:

  • To review advances in prenatal diagnosis using fetal DNA in maternal plasma.
  • To discuss the potential of fetal epigenetic markers.
  • To explore mechanisms behind fetal DNA concentration changes.

Main Methods:

  • Analysis of circulating fetal DNA in maternal plasma.
  • Review of current literature on fetal genetic trait detection.
  • Exploration of epigenetic marker development.

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Main Results:

  • Prenatal diagnosis of autosomal recessive conditions is now feasible.
  • Abnormal fetal DNA concentrations are linked to pregnancy complications.
  • Fetal epigenetic markers show significant diagnostic potential.

Conclusions:

  • Maternal plasma fetal DNA analysis is evolving beyond paternally inherited traits.
  • Epigenetic markers represent a promising frontier for non-invasive prenatal testing.
  • Understanding quantitative aberrations is crucial for obstetric applications.