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Prenatal diagnosis: progress through plasma nucleic acids

Nature Reviews Genetics volume 8, pages 71–77 (2007)Cite this article

Abstract

Over the past 40 years, much effort has been spent on developing non-invasive prenatal diagnostic methods. Since 1997, the progress of this field has been accelerated by the unexpected finding of extracellular fetal nucleic acids in maternal plasma. These developments have been translated into many novel genetic, epigenetic and gene-expression markers, and are expected to have a fundamental impact on the future practice of prenatal diagnosis.

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Figure 1: Principles of circulating fetal DNA analysis for prenatal diagnosis of single-gene disorders.
Figure 2: Principles of circulating fetal DNA and RNA analysis for the prenatal detection of trisomies.

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Acknowledgements

The work in the authors' laboratories is supported by the Hong Kong Research Grants Council, the Innovation and Technology Fund and the Li Ka Shing Foundation.

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Authors and Affiliations

  1. Li Ka Shing Institute of Health Sciences and the Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, 3032 Ngan Shing Street, Hong Kong SAR, China

    Y. M. Dennis Lo & Rossa W. K. Chiu

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  1. Y. M. Dennis Lo
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  2. Rossa W. K. Chiu
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Corresponding author

Correspondence to Y. M. Dennis Lo.

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Competing interests

Both authors have filed patent applications on aspects of circulating fetal nucleic acids in maternal plasma. Y.M.D.L. is a shareholder of Plasmagene Biosciences Limited.

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DATABASES

OMIM

β–thalassaemia

Down syndrome

haemophilia A

FURTHER INFORMATION

Chinese University of Hong Kong Department of Chemical Pathology

Human Epigenome Project

Glossary

Amniocentesis

A clinical procedure that involves the insertion of a needle through the womb to sample the amniotic fluid that bathes the fetus.

Chorionic villus sampling

A clinical procedure that is carried out to obtain a biopsy of the placenta during early pregnancy.

Confined placental chromosomal abnormalities

Chromosomal abnormalities that are restricted in distribution to the placenta, so are not found throughout all cells of the fetus.

Fetomaternal haemorrhage

Bleeding from a fetal source into the maternal circulation.

Gestational trophoblastic disease

The tumorous growth of fetal tissues in a maternal host.

Hyperemesis gravidarum

Severe vomiting in pregnancy.

Mass spectrometry

An analytical technique that detects and identifies small molecules, for example, peptide fragments and oligonucleotides, on the basis of their molecular mass and charge.

Polyhydramnios

An excess of amniotic fluid.

Pre-eclampsia

A clinical condition that presents during the second half of pregnancy; hallmark manifestations are hypertension, oedema and proteinuria.

Rhesus D incompatibility

When a woman with rhesus D antigen (RHD)-negative blood group is pregnant with a RHD-positive fetus, immune destruction of the fetal red blood cells can occur if the maternal immune system has previously been sensitized by the RHD antigen.

Single-allele base extension reaction

An analytical protocol that involves an extension reaction with an oligonucleotide primer that targets the detection of a specific polymorphic allele or a mutation.

Syncytiotrophoblast microparticles

Subcellular particles derived from syncytiotrophoblasts, which are the outermost layer of cells that cover the floating villi of the placenta.

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Dennis Lo, Y., Chiu, R. Prenatal diagnosis: progress through plasma nucleic acids. Nat Rev Genet 8, 71–77 (2007). https://doi.org/10.1038/nrg1982

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