The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis

Authors: Wright, Caroline F.; Burton, Hilary

Source: Human Reproduction Update, Volume 15, Number 1, 2009 , pp. 139-151(13)

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Abstract:

BACKGROUND

Cell-free fetal nucleic acids (cffNA) can be detected in the maternal circulation during pregnancy, potentially offering an excellent method for early non-invasive prenatal diagnosis (NIPD) of the genetic status of a fetus. Using molecular techniques, fetal DNA and RNA can be detected from 5 weeks gestation and are rapidly cleared from the circulation following birth.

METHODS

We searched PubMed systematically using keywords free fetal DNA and NIPD. Reference lists from relevant papers were also searched to ensure comprehensive coverage of the area.

RESULTS

Cell-free fetal DNA comprises only 36 of the total circulating cell-free DNA, therefore diagnoses are primarily limited to those caused by paternally inherited sequences as well as conditions that can be inferred by the unique gene expression patterns in the fetus and placenta. Broadly, the potential applications of this technology fall into two categories: first, high genetic risk families with inheritable monogenic diseases, including sex determination in cases at risk of X-linked diseases and detection of specific paternally inherited single gene disorders; and second, routine antenatal care offered to all pregnant women, including prenatal screening/diagnosis for aneuploidy, particularly Down syndrome (DS), and diagnosis of Rhesus factor status in RhD negative women. Already sex determination and Rhesus factor diagnosis are nearing translation into clinical practice for high-risk individuals.

CONCLUSIONS

The analysis of cffNA may allow NIPD for a variety of genetic conditions and may in future form part of national antenatal screening programmes for DS and other common genetic disorders.

Keywords: cell-free fetal DNA (cffDNA); non-invasive prenatal diagnosis (NIPD); cell-free fetal nucleic acids; prenatal diagnosis; genetic diagnosis

Document Type: Research article

DOI: http://dx.doi.org/10.1093/humupd/dmn047

Publication date: 2009-01-01

More about this publication?

Human Reproduction Update, first published in 1995, aims to provide invited, comprehensive, authoritative, up-to-date critical and balanced reviews covering all areas of human reproduction including reproductive physiology and pathology, endocrinology, andrology, gonad function, gametogenesis, fertilization, embryo development, implantation, pregnancy, genetics, genetic diagnosis, oncology, infectious disease, surgery, contraception, infertility treatment, psychology and counselling, ethics and social issues. These papers are peer-reviewed to the highest editorial and scientific standards. Human Reproduction Update is published on behalf of the European Society of Human Reproduction and Embryology (ESHRE).

The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis

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