PDF(Pubmed)
Abstract：
UNASSIGNED: This study was to evaluate the performance of noninvasive prenatal testing (NIPT) in detecting fetal chromosome disorders in pregnant women.
UNASSIGNED: From October 1st, 2017, to December 31th, 2022, a total of 15,304 plasma cell free DNA-NIPT samples were collected for fetal chromosome disorders screening. The results of NIPT were validated by confirmatory invasive testing or clinical outcome follow-up. Further, NIPT performance between low-risk and high-risk groups, as well as singleton pregnancy and twin pregnancy groups was compared. Besides, analysis of 111 false-positive cases was performed.
UNASSIGNED: Totally, NIPT was performed on 15,086 eligible venous blood samples, of which 179 (1.19%) showed positive NIPT results and 68 were further validated to be true positive samples via confirmatory invasive testing or follow-up of clinical outcomes. For common chromosome aneuploidies, sex chromosome abnormalities (SCA) and other chromosomal aneuploidies, the detection sensitivities of NIPT were all 100%, the specificities were 99.87%, 99.70%, and 99.68% and the positive predictive values (PPVs) were 65.45%, 31.82%, and 10.91%, respectively. No statistically significant variance in detection performance was observed among 2987 high-risk and 12,099 low-risk subjects, as well as singleton and twin pregnancy subjects. The concentration of cell-free fetal DNA of 111 false-positive cases ranged from 5.5% to 33.7%, which was higher than the minimum requirement of NIPT.
UNASSIGNED: With stringent protocol, NIPT shows high sensitivity and specificity for detecting fetal chromosome disorders in a large-scale clinical service, helping improving overall pregnancy management.
UNASSIGNED: From October 1st, 2017, to December 31th, 2022, a total of 15,304 plasma cell free DNA-NIPT samples were collected for fetal chromosome disorders screening. The results of NIPT were validated by confirmatory invasive testing or clinical outcome follow-up. Further, NIPT performance between low-risk and high-risk groups, as well as singleton pregnancy and twin pregnancy groups was compared. Besides, analysis of 111 false-positive cases was performed.
UNASSIGNED: Totally, NIPT was performed on 15,086 eligible venous blood samples, of which 179 (1.19%) showed positive NIPT results and 68 were further validated to be true positive samples via confirmatory invasive testing or follow-up of clinical outcomes. For common chromosome aneuploidies, sex chromosome abnormalities (SCA) and other chromosomal aneuploidies, the detection sensitivities of NIPT were all 100%, the specificities were 99.87%, 99.70%, and 99.68% and the positive predictive values (PPVs) were 65.45%, 31.82%, and 10.91%, respectively. No statistically significant variance in detection performance was observed among 2987 high-risk and 12,099 low-risk subjects, as well as singleton and twin pregnancy subjects. The concentration of cell-free fetal DNA of 111 false-positive cases ranged from 5.5% to 33.7%, which was higher than the minimum requirement of NIPT.
UNASSIGNED: With stringent protocol, NIPT shows high sensitivity and specificity for detecting fetal chromosome disorders in a large-scale clinical service, helping improving overall pregnancy management.
摘要：
■这项研究旨在评估非侵入性产前检测（NIPT）在检测孕妇胎儿染色体疾病中的性能。
■从10月1日起,2017年，至12月31日，2022年，共收集15304个无浆细胞DNA-NIPT样品用于胎儿染色体疾病筛查。NIPT的结果通过验证性侵入性测试或临床结果随访得到验证。Further,低风险和高风险人群之间的NIPT表现，以及单胎妊娠和双胎妊娠组进行比较。此外,对111例假阳性病例进行分析。
■完全,对15,086个合格的静脉血样本进行了NIPT，其中179例(1.19%)NIPT结果为阳性,68例通过确证性侵入性试验或临床结局随访进一步验证为真阳性.对于常见的染色体非整倍性，性染色体异常（SCA）和其他染色体非整倍体，NIPT的检测灵敏度均为100%,特异性为99.87%,99.70%,和99.68%，阳性预测值(PPVs)为65.45%，31.82%，10.91%，分别。在2987名高风险和12,099名低风险受试者中，没有观察到检测性能的统计学差异，以及单胎和双胎妊娠受试者。111例假阳性病例的胎儿游离DNA浓度范围为5.5％至33.7％，高于NIPT的最低要求。
■有了严格的协议，在大规模的临床服务中，NIPT对检测胎儿染色体异常具有很高的敏感性和特异性，帮助改善整体妊娠管理。
■从10月1日起,2017年，至12月31日，2022年，共收集15304个无浆细胞DNA-NIPT样品用于胎儿染色体疾病筛查。NIPT的结果通过验证性侵入性测试或临床结果随访得到验证。Further,低风险和高风险人群之间的NIPT表现，以及单胎妊娠和双胎妊娠组进行比较。此外,对111例假阳性病例进行分析。
■完全,对15,086个合格的静脉血样本进行了NIPT，其中179例(1.19%)NIPT结果为阳性,68例通过确证性侵入性试验或临床结局随访进一步验证为真阳性.对于常见的染色体非整倍性，性染色体异常（SCA）和其他染色体非整倍体，NIPT的检测灵敏度均为100%,特异性为99.87%,99.70%,和99.68%，阳性预测值(PPVs)为65.45%，31.82%，10.91%，分别。在2987名高风险和12,099名低风险受试者中，没有观察到检测性能的统计学差异，以及单胎和双胎妊娠受试者。111例假阳性病例的胎儿游离DNA浓度范围为5.5％至33.7％，高于NIPT的最低要求。
■有了严格的协议，在大规模的临床服务中，NIPT对检测胎儿染色体异常具有很高的敏感性和特异性，帮助改善整体妊娠管理。
