Method for the non-invasive prenatal diagnosis of chromosomal and/or genetic abnormalities

摘要

The detection of gross chromosomal abnormalities is a major focus of invasive prenatal diagnosis testing. The object of the present invention is to suggest a new method for the diagnosis of chromosomal and/or genetic abnormalities that is readily amenable to automation and high-throughput screening. This stated object of the invention is achieved by a method, characterised by the following steps:obtaining DNA or RNA with the genetic test locus,obtaining DNA or RNA of a control locus anddetecting of the chromosomal and/or genetically determined abnormalities by Real-Time Polymerase Chain Reaction (RT-PCR) analysis, which detects specific nucleic acid amplification products as they accumulate in real-time. In particular the method is further characterised by a multiplex RT-PCR assay in which amplification of both loci can been simultaneously monitored in the same reaction vessel, by a fluorescently labeled oligonucleotide probe, which eliminates the need for post-PCR processing. It is a preferred object of the invention to provide the method for the detection of trisomy 21 and in this way sequence specific primers for this specific analysis has been designed.