Use of ffDNA in prenatal diagnosis
Summary of Study:
In 1996 it was discovered (elsewhere) that there is a large
amount of non-cellular fetal DNA in pregnant women's blood. In
collaboration with the Blood Transfusion Service and subsequently
the University of the West of England, Professor Soothill and
colleagues at St Michael's Hospital conducted some of the early
studies demonstrating the origin of this DNA (the placenta), the
changes with gestational age, the possibility of urine as the
source and links to placental disease. We were one of the first
units to use cffDNA to exclude sex-linked fetal disease. We also
explored the ethical aspects of the implementation of this
technology. The use of this approach for non-invasive prenatal
diagnosis of trisomy such as Down's syndrome is now established in
the private sector throughout the UK (see the
local leaflet). This has significantly reduced the number of
invasive procedures and associated miscarriages.
Our work (for example, authored by Soothill and Lo)
has developed the forefront of the guidance relating to the
implementation of this technology into the NHS and that is expected
as soon the major re-organisation of the genetic laboratory
services is ready.
Aims and Hypothesis:
In 1997: That using cell free DNA in maternal blood could allow
genetic fetal diagnosis without the need for invasive procedures
and their associated risks.
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Results:
There have been numerous publications relating to the work
conducted by Prof Soothill and colleagues, please click
here to find out more.
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What are the next steps and how could this study impact on
patient care at UH Bristol and beyond?
The above body of work contributed to the body of work that
allowed the DNA sequencing technology to be applied to introduce
patient service testing around the world (laboratories mostly in
the USA and Singapore) with widespread uptake in the UK in the
private sector (including in our own
hospital now).
The implementation of this technology is assessed in the
Scientific Impact Paper of the RCOG:
Soothill and Lo. Non-invasive Prenatal Testing for Chromosomal
Abnormality using Maternal Plasma DNA. Royal College of
Obstetricians and Gynaecologists. Scientific Impact Paper No. 15. March
2014.
The next steps will be replacing our current combined test for
Down's screening and the use of cffDNA as the front-line screen for
chromosomal abnormality. In time this will extend beyond the
existing other indications (such as sex-linked diseases) and
include single gene defects.
