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07 March 2011

Down Syndrome Blood Test Shows Positive Results As Alternative To Invasive Amniocentesis
A simple prenatal blood test maybe all that is need to
identify Down Syndrome after the results of a trial proved to have
shown both medical and commercial value according to a paper published
in Nature Magazine this week.
Its seen as a remarkable discovery that has broken the
fundamental medical problems of firstly identifying a fetus’s DNA
(FfDNA) from the mother’s blood and then identifying signs of Down
The discovery of FfDNA were first made in the 1997. 
It’s been a difficult process as any signs of FfDNA are not visible
until 4 weeks into a pregnancy, and only as short fragments of DNA and
not whole chromosomes.
Recent advances in analysis of FfDNA now have
uncovered ways to determine the sex of a child and it’s blood group, and
these medical discoveries have enabled the latest technique to identify
Down Syndrome in a fetus.
The research team lead by Elisavet A Papageorgiou,

Cytogenetics and Genomics Department, The Cyprus Institute of Neurology
and Genetics, examined blood samples to identify any fetus that carried
47 chromosomes, rather than 46.  Those carrying 47 chromosomes
indicated Down Syndrome, or Trisomy 21.

1 in 700 fetus will have Down Syndrome, yet
statistically is more prevalent in babies born to older mothers.  Its a
debilitating condition which show particular physical characteristics,
with the children having a lower IQ and often their growth is impaired.
Until now women who choose to conduct a test for Down Syndrome have been subjected to a number of procedures. 
Initially an ultrasound is preformed to test the size
of the space in the baby’s neck.  This is followed invasive surgery
where a sample of amniotic fluid is taken after an obstetrician inserts a
needle into the uterus. 
Not only is the surgery invasive, but there has always been a risk that as a result of the operation the fetus will miscarry.
The results of the new blood test appear more than
positive with an 100% correct identification of 14 trisomy 21 and 26
normal cases.
For the significant number of women who would bend
over backward to avoid any risky operation on their child this maybe
heart warming news.  However it will still be a number of years until
further research is concluded and the product is delivered to the
Thank you very much for the following comment!!!

you so much for posting the article about the latest research and
publication that indicates a high rate of success. As an older woman, my
fetus is at risk for Down’s Syndrome and others, but I am scared to do
an amniocentesis because I may not conceive again. It’s a risk we’d
rather not take. So I will speak to my doctor about the latest news. And
again, thank you! 🙂

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