Down Syndrome diagnosed with blood test
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by Aimee Keenan-Greene
New research in the journal Nature Medicine says Down Syndrome may be diagnosed prenatally with a simple blood test the mother takes.
In the study, they correctly identified 14 Down syndrome cases and 26 normal fetuses.
Scientists in Europe say the procedure, not commercially available yet, may one day help avoid current more extensive procedures that detect the condition.
Right now pregnant women take blood tests and ultrasounds to find out if the fetus is at risk for Down syndrome. For a firm diagnosis, doctors take a sample of amniotic fluid or the placenta, and that carries a risk of miscarriage.
According to the Down Syndrome Society of Rhode Island, Down syndrome is a common genetic variation which usually causes delay in physical, intellectual and language development. The exact causes of the chromosomal rearrangement is unknown. It is one of the leading clinical causes of cognitive delay in the world.
This report is the latest of several recent studies suggesting scientists can spot Down syndrome through fetal DNA in the mother's bloodstream.
In January, Researchers writing in the British Medical Journal said a blood test could be used to rule out Down Syndrome in high risk pregnancies.
Scientists say multiplexed maternal plasma DNA sequencing analysis could be used to determine fetal trisomy 21 and the result is about 98 percent of the invasive diagnostic procedures like amniocentesis or chorionic villus sampling avoided, if referrals were based on the sequencing blood test results.
According to MedPageToday, the method involves testing the blood for free DNA sequences from chromosome 21. Between 10 percent and 20 percent of free DNA sequences in a pregnant woman are from the fetus, so an elevated proportion of chromosome 21 sequences indicates trisomy 21, the researchers argued.
Researchers studied more than 750 mothers in prenatal diagnostic units in Hong Kong, United Kingdom, and the Netherlands at high risk for fetal trisomy 21 who underwent definitive diagnosis by full karyotyping. 86 had a fetus with trisomy 21.
According to the Centers for Disease Control and Prevention, the incidence of Down syndrome in the United States is estimated to be 1 in every 733 live births. There are approximately 400,000 families in the United States affected by Down syndrome.
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