摘要
目的:探讨提高无创产前DNA检测(NIPT)性能的新的图形辅助算法(gNIPT),以期在不增加额外实验步骤的前提下避免常规NIPT(nNIPT)漏检的风险。方法:gNIPT将每条染色体划分为多个2 Mb大小的窗口,计算每个窗口的Z值和染色体拷贝数变化,并在折线图中可视化每条染色体的Z值变化。对11 565例单胎妊娠妇女NIPT的测序数据进行nNIPT和gNIPT分析。对于nNIPT和gNIPT提示存在染色体异常的阳性病例,利用染色体微阵列分析验证,并用总体的阳性预测值(PPV)评估gNIPT的检测效果。结果:通过gNIPT分析多检出了3例真阳性病例,gNIPT提高了nNIPT检测21、18和13三体综合征的PPV(91.4%vs 88.3%)。在nNIPT检测为阴性的病例中,gNIPT发现1例18号染色体异常病例和1例致病性拷贝数变异。结论:利用gNIPT可以弥补nNIPT的算法缺陷,一定程度上提高无创基因检测的准确性。
Aim:In order to improve the performance of non-invasive prenatal DNA testing(NIPT),we investigate an innovative graphics auxiliary algorithm(gNIPT) which is expected to avoid the risk of missing detection by normal NIPT(nNIPT) without adding experimental steps.Methods:gNIPT divided each chromosome into multiple windows of 2 Mb size,calculated the Z-score and copy number variation of each window,and visualized the Z-score of each chromosome in a line chart.nNIPT and gNIPT analysis were performed to analyze the NIPT sequencing data of 11 565 singleton pregnancies.For the positive cases with chromosomal abnormalities indicated by nNIPT and gNIPT,chromosomal microarray analysis was used to verify.The overall positive predictive value(PPV) was used to evaluate the detection efficacy of gNIPT.Results:gNIPT analysis detected 3 additional true positive cases,demonstrating that gNIPT improved the overall PPV of nNIPT for trisomy 21,18 and 13(91.4% vs 88.3%).Among the negative cases tested by nNIPT,gNIPT detected/chromosome 18 abnormality and/pathogenic chromosome copy number variation.Conclusion:gNIPT can remedy algorithm defects of nNIPT,and improve the accuracy of nNIPT to a certain extent.
作者
张玲莉
朱庆文
王婧
蒋鸿儒
卞文君
ZHANG Lingli;ZHU Qingwen;WANG Jing;JIANG Hongru;BIAN Wenjun(Prenatal Screening and Diagnosis Center,Nantong Maternity and Child Health Care Hospital Affiliated to Nantong University,Nantong,Jiangsu 226010)
出处
《郑州大学学报（医学版）》
CAS
北大核心
2022年第6期835-839,共5页
Journal of Zhengzhou University(Medical Sciences)
关键词
无创产前DNA检测
染色体拷贝数变异
图形辅助算法
non-invasive prenatal testing
chromosome copy number variation
graphics auxiliary algorithm
