METHOD AND DEVICE FOR DETERMINING MICRODELETION AND MICRODUPLICATION IN FOETAL CHROMOSOMES

Disclosed are a method and device for determining microdeletion and microduplication in the foetal chromosomes. The method comprises the steps of: acquiring the concentration fm of fragments containing the microdeletion and microduplication; acquiring the male/female foetal nucleic acid concentration fy/fs; calculating the ratio rmY of the concentration fm of fragments containing the microdeletion and microduplication to the male foetal nucleic acid concentration fy, or the ratio rms of the fm to the female foetal nucleic acid concentration fs; calculating the rmY or rms according to the deleted copy number or the duplicated copy number, and filtering out false positives; taking the decimal part dmY of rmY or the decimal part dms of rms, determining whether dmY/dms is positive or not, and if not, then filtering out the result; calculating the sum amY of the concentration fm of fragments containing the microdeletion and microduplication and the male foetal nucleic acid concentration fy, or the sum ams of the f