According to MSNBC, researchers in Europe have been able to find Down syndrome prenatally through a blood test to pregnant women, perhaps lessening the need for more extensive procedures used to detect the condition. A report published in the Journal Nature Medicine is the latest of studies that suggests Down syndrome diagnosis through fetal DNA that has been shed in the mother’s bloodstream.
Other research groups in Cyprus, Greece and England conducted blind tests in which they were able to correctly identify 14 cases of Down syndrome through a blood test and 26 normal fetuses.
Down syndrome results in cognitive delays and is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome . Currently, a pregnant woman must go through blood tests and ultrasound to find out if the fetus is at risk for Down syndrome. The condition is estimated at 1 in 733 births. An additional test of collecting a sample of amniotic fluid or the placenta is necessary for a firm diagnosis. Taking a sample of amniotic fluid carries its own risk such as fetal injury and miscarriage. Having a reliable blood test for Down syndrome could eliminative the invasive procedure and lessen the risk of miscarriage.
Scientists in other studies have reported that analyzing the mother’s blood could detect Down syndrome in a fetus without having to collect amniotic fluid samples. No commercial test exists yet but at least one company is hoping to introduce it in the U.S. within a year.
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