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The Fertility Show


 

Fetal genome sequenced using only a blood sample from the mother

09 July 2012

By Dr Lux Fatimathas

Appeared in BioNews 664

US researchers have for the first time sequenced the genome of a fetus using only a blood sample from the mother. It is hoped this new form of non-invasive sampling could allow doctors to screen for a range of genetic conditions prenatally, with minimal risk to the fetus.

'We are interested in identifying conditions that can be treated before birth, or immediately after. Without such diagnoses, newborns with treatable metabolic or immune system disorders suffer until their symptoms become noticeable and the causes are determined', said Professor Stephen Quake of Stanford University, California, who led the study.

The prenatal detection of genetic conditions allows for treatments to begin immediately after birth. However, current methods for detection, such as CVS and amniocentesis, require invasive procedures that can endanger the pregnancy.

New research demonstrates how non-invasive procedures involving blood samples can avoid these risks. As a mother's blood is known to contain both maternal and fetal DNA, samples can be used to identify genetic conditions prenatally. Non-invasive tests for some chromosomal abnormalities, such as Down's syndrome, are currently available and research published last month demonstrated that a fetus' genome could be sequenced using blood samples taken from both the mother and father, allowing doctors to screen for other genetic conditions.

This latest advance, however, negates the need for a paternal DNA sample, allowing the entire genome of the fetus to be sequenced, even in cases where the paternity is unknown or the father is not available to provide a DNA sample.

As fetal DNA contains DNA from both the mother and father, the new study demonstrates how paternal sequences can be inferred from the maternal blood sample. The researchers were able to sequence the entire fetal genome with 99.8 percent accuracy.

A potentially cheaper procedure was also developed, whereby only the fetal exome was sequenced (the portion of the fetal genome that codes for proteins). Over the course of pregnancy increasing amounts of fetal DNA pass across the placenta and into the mother's bloodstream, such that by the final trimester researchers were able to successfully sequence 90 percent of the fetal exome.

The authors of the study state that the techniques developed offer 'a gateway to comprehensive non-invasive prenatal diagnosis of genetic disease', which would be of particular significance to those diseases where patients would benefit from immediate postnatal treatment, such as severe immunodeficiency. Further research and development is required before the techniques can be trialled in clinics, however.

The study was published in the journal Nature.

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

13 April 2015 - by Dr Rachel Brown 
The first baby in Europe has been born following a new IVF-based technique developed to prevent the inheritance of genetic disorders...
09 March 2015 - by Kirsty Oswald 
US company Sequenom has revealed that its prenatal blood test - MaterniT21 PLUS - has detected potential cancer in at least 40 expectant mothers since its launch three years ago...
04 November 2013 - by María Victoria Rivas Llanos 
A new method for prenatal testing for Down's syndrome will be tried out at Great Ormond Street Hospital for Children (GOSH), London....
26 November 2012 - by Dr Lux Fatimathas 
Non-invasive pre-natal screening for certain abnormalities in fetal chromosomes should be offered to at-risks mothers, recommends the American College of Obstetricians and Gynecologists...
16 July 2012 - by Daryl Ramai 
Technology that relies on less DNA to more accurately sequence people's genomes has been unveiled by a US biotech company...

11 June 2012 - by Dr Daniel Grimes 
Researchers have sequenced the entire genome of an 18 and a half-week-old fetus using DNA samples from the blood of its mother and saliva samples from its father. These findings provide a proof of principle that a fetus can be examined for genetic defects using non-invasive technologies...
23 January 2012 - by Dr Rebecca Robey 
A test has been developed to determine the sex of a fetus from only five weeks old. The test relies on a blood sample from the mother and therefore carries no risk to the child...
17 January 2011 - by Owen Clark 
New research suggests that Down's syndrome could be detected using genetic screening, avoiding the need for invasive detection procedures....
13 October 2008 - by Lorna Stewart 
Scientists at Stanford University in California, US have developed a new non-invasive prenatal test for Down's syndrome. Stephen Quake and colleagues successfully identified presence and absence of fetal chromosomal abnormality in 18 pregnant women from maternal blood samples. The work is published this month in the journal...

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