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Abstract

A method for detecting the presence or absence of heteroploidy of fetal chromosomes includes: obtaining a primary amplification products by amplifying chromosomal DNA obtained from a biological sample collected from a pregnant mother; performing multiplex amplification of a plurality of target regions to obtain a secondary amplification product using the primary amplification product as a template; adding a label to both terminals of the secondary amplification product to obtain the labeled secondary amplification product; performing amplification using a primer pair annealing to the label using the labeled secondary amplification product as a template to obtain a tertiary amplification product; and determining the amplification amount and base sequences of the plurality of target regions from the tertiary amplification product. The primary amplification amplifies the total amount of DNA by 6000 to 30000 times, and the secondary amplification step amplifies the total amount of DNA by 3 to 150 times.

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First Claim