Abstract：Objective To evaluate the clinical applicability of extended non-invasive prenatal testing (NIPT-plus) by increasing the depth of sequencing through which to provide reference for prenatal counseling.Methods A retrospective analysis of 36 730 pregnant women who underwent NIPT and 4 633 pregnant women who underwent NIPT-plus from August 2018 to December 2020 in the Inner Mongolia Maternal and Child Health Hospital was used. The age and gestational weeks among pregnant women were 17 to 49 years old and 12 to 37 weeks. 77 false-positive and 4 false-negative samples of NIPT were retested by NIPT-plus thought which the sequencing depth increased by 3 times. The consistency between NIPT and NIPT-plus and prenatal diagnosis was compared and analyzed.Results The positive predictive value (PPV) of the NIPT screening complex trisomy (T21, T18, T13) was significantly higher than that of the NIPT-plus (71.11% vs 42.31%, P＜0.05), while there were not significantly different from those of NIPT-plus for the positive predictive values of screening sex chromosomal abnormalities, rare chromosome aneuploidies, and microdeletion microduplications (MMS) with PPV. After NIPT-plus was performed on 77 false positive samples of NIPT, 6 (7.79%) changed to low risk, and 1 of the 4 false negative samples changed from low risk to T15 high risk, consistent with the prenatal diagnosis results. After NIPT-plus among 77 false-positive samples, 6 cases (7.79%) showed to low risk, and 1 of the four false-negative samples showed to T15 high risk (previous low risk), which were consistent with prenatal diagnosis results.Conclusion NIPT-plus can partly reduce the false positive rate of NIPT, improve the detection rate of RCAs which would reduce the risk of birth defects. Therefore, clinical genetic counseling can be reasonably selected according to the risk value of pregnant women.
刘雅贤, 王杰, 武丽琼, 安槿, 张丽春, 郭志远, 王晓华, 贾跃旗. 测序深度对无创产前检测效能的影响分析[J]. 中国生育健康杂志, 2023, 34(2): 138-143.
LIU Yaxian, WANG Jie, WU Liqiong, AN Jin, ZHANG Lichun, GUO Zhiyuan, WANG Xiaohua, JIA Yueqi. Analysis on the influence of sequencing depth on NIPT detection efficiency. Chinese Journal of Reproductive Health, 2023, 34(2): 138-143.
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