Rapid Aneuploidy Testing, Traditional Karyotyping, or Both, in Prenatal Diagnosis

Abstract

The accuracy of new molecular diagnostics, fluorescence in-situ hybridisation (FISH) or quantitative fluorescence-polymerase chain reaction (QF-PCR), collectively known as rapid aneuploidy testing (RAT), in prenatal diagnosis has already been demonstrated in a number of large studies. The challenge now is how to apply them clinically in the most cost-effective manner. There is currently a hot debate in this area of prenatal diagnosis.