Abstract Objective: To analyze the effect of diffrent type of NIPT platforms for detection of fetal microdeletion and microduplication, and to explore the causes of difference of these NIPT screening platforms. Methods: A retrospective analysis was performed, in which, 23,170 peripheral blood samples of pregnant women were used to screen fetal chromosome microdeletion and microduplication based on three types of NIPT screening platforms from January to October 2018. Results: The screening positive rate of fetal chromosome microdeletion and microduplication based on the DA8600 platform, the CN500 platform, and the BGI500 platform were 0.38%, 0.26%, and 0.58%, respectively, which had significant different (P<0.05). The positive predictive value of screen fetal chromosome microdeletion and microduplication based on the DA8600 platform, the CN500 platform, and the BGI500 platform were 26.67%, 16.67%, and 42.86%, which had no significant different (P>0.05). The process parameters of the BGI500 platform was 6.61±1.19M, which was significant higher than that of the DA8600 or CN500 platforms. Conclusion: The NIPT for screening fetal CNV has certain clinical predictive value, which combined with unique read number can improve the efficiency of fetal chromosome microdeletion and microduplication detection. It is suggested that screening positive samples with fetal chromosome microdeletion or microduplication, especially for samples with pathogenicital chromosome microdeletion or microduplication, prenatal diagnosis by amniocentesis for identify is necessary.
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