Abstract

The most common aneuploidies involve chromosomes 21, 18, 13, X and Y. Currently, prenatal diagnosis of aneuploidy is based on complete chromosomal analysis of cultured amniocytes requiring at least two weeks. FISH may offer rapid results but is time-consuming and cumbersome. Quantitative fluorescence polymerase chain reaction (QF-PCR) is a rapid method for the detection of chromosome copy number by amplification of repeat sequences at chromosome-specific polymorphic loci. Our objective was to assess the performance of QF-PCR in prenatal diagnosis of aneuploidy.

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