cffDNA aneuploid detection method and system, storage medium and detection equipment

The invention provides a cffDNA aneuploidy detection method and a system, a storage medium and detection equipment, and the method comprises the following steps: extracting cffDNA from a to-be-detected sample and constructing a library; sequencing the library to obtain sequencing data; according to the sequencing data, obtaining a Zscore value corresponding to the target chromosome and double fetal concentrations; wherein the dual fetal concentration is used for reflecting the mutual relation between chromosome fetal concentration and standard fetal concentration; and respectively carrying outthreshold comparison on the Zscore value and the dual fetal concentration, and judging the aneuploidy of the target chromosome according to the threshold comparison result. 本发明提出了一种cffDNA非整倍体检测方法、系统、储存介质以及检测设备，其中，方法包括以下步骤：从待测样本中提取cffDNA并构建文库；对所述文库进行测序获取测序数据；根据所述测序数据获取目标染色体对应的Zscore值以及双重胎儿浓度；其中，所述双重胎儿浓度用于反映染色体胎儿浓度与标准胎儿浓度的相互关系；分别对所述Zscore值以及双重胎儿浓度进行阈值比较，根据所述阈值比较结果判断目标染色体的非整倍性。