DESIGN OF DIGITAL PCR FOR NON-INVASIVE PRENATAL TESTING

    公开(公告)号:EP3198496B1

    公开(公告)日:2018-06-13

    申请号:EP15774536.5

    申请日:2015-09-22

    摘要: Techniques are provided for determining settings of a dPCR experiment for the detection of a chromosomal aneuploidy in a plasma sample from a female pregnant with a fetus. Data about the sample, the dPCR process, and a desired accuracy can be used to determine the settings. Such settings can include a minimal input number of control chromosome molecules for the dPCR experiment, a minimal number of control chromosome molecules for a pre-amplification procedure, and a number of PCR cycles in the pre-amplification procedure. These settings can be used to satisfy the accuracy specified by the accuracy data. Thus, the dPCR experiment can be designed to achieve the desired accuracy while reducing cost, e.g., by not using more of a sample than needed and not performing more pre-amplification than needed or performing more manipulations than needed.