New non-invasive blood test for genetic maladies in the foetus

Scientists in Plymouth develop a low cost, safer alternative to amniocentesis; analyses mother’s blood to reveal recessive diseases.


In a collaborative effort between Plymouth Hospitals NHS Trust and Plymouth University, the search for a low risk, low cost blood test which would provide the blood type, gender and specific genetic markers was led by PhD student Kelly Sillence.

The traditional test for mothers considered at risk required analysis of the amniotic fluid which meant using a needle to pierce the amniotic sac that surrounds the foetus in the womb. The procedure is relatively costly and carries a 1% risk of miscarriage.

The new test can make use of the maternal blood taken for analysis at the first GP or midwife consultation and costs only a few pence.

Foetal blood grouping and sexing has been possible using this method for nearly a decade but this refinement of the test allows for the early identification of conditions like haemophilia, muscular dystrophy and haemolytic disease of the new born.

Early diagnosis in turn opens up the opportunity for early treatment, perhaps even at the genetic level.

Nonetheless the first and most obvious benefits are the reduced cost and reduced risk making this a significant advance in pre-natal care.




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