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Accurate diagnosis of fetal chromosomal abnormalities currently requires potentially risky invasive procedures such as amniocentesis or chorionic villus sampling. Researchers have now devised a method of detecting fetal chromosomal abnormalities by analyzing free fetal DNA in maternal plasma.
In a preliminary trial of the technique, the researchers studied 60 pregnant women undergoing prenatal diagnostic testing at 8 to 37 weeks of gestation. In maternal blood samples, the researchers were able to quantify the ratio of fetal to maternal DNA from chromosome 21 (frequently associated with fetal anomalies) and chromosome 13 (rarely associated with fetal anomalies). A significant difference in the ratios for the two chromosomes was interpreted a…