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Fetal cells, DNA eyed for new screening tests; genetic disorders, preeclampsia.(Obstetrics)
LISB0N -- The relatively recent discovery that fetal cells and fetal DNA enter the maternal circulation is laying the groundwork for several new fetal and maternal screening tests.
Initial efforts to use fetal cell levels in maternal blood to screen for aneuploidy have been disappointing. The sensitivity and specificity of such measurements thus far have paled in comparison with standard screening methods for these disorders. But circulating fetal cells, and particularly fetal DNA, have more to offer, such as improving the sensitivity of existing screening modalities, detecting certain genetic disorders in the fetus, and predicting preeclampsia, Dr. Wolfgang Holzgreve said at a world congress sponsored by the Fetal Medicine Foundation.
A major problem with using fetal cells for aneuploidy screening is that only about 1 in 1 million cells in the maternal blood are fetal cells, so they can be difficult to obtain for analysis. This approach may, however, prove to be a useful adjunct for improving the performance of standard screening methods, said Dr. Holzgreve, chair of the department of obstetrics and gynecology at the University of Basel (Switzerland).
The quadruple screen, for example, has a 75%-80% detection rate for aneuploidy, and 3% of all test results are positive. Measuring fetal cell levels could potentially improve the sensitivity, but for now this type of testing is expensive and difficult for many labs to reproduce; therefore it is not yet clinically applicable, Dr. Holzgreve said.
One area in which fetal cells and DNA are proving clinically useful is in the diagnosis of Rhesus factor D. Single-cell polymerase chain reaction testing is being used clinically at several laboratories for this purpose, and when fetal cells can be obtained from the maternal serum, testing has been 100% specific for detecting this disorder. Fetal DNA can also be used to test for this disorder, and there appears to be promise for the detection of other autosomal dominant disorders as well.
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Source: HighBeam Research, Fetal cells, DNA eyed for new screening tests; genetic disorders,...