医生专栏
临床数据
超过
10,000,000
进行的NIPT检测
迄今为止，GenePlanet已使用专有技术在全球范围内进行了超过1000万次的NIPT检测（多于任何其他NIPT供应商），意味着我们提供的服务可靠且值得信赖。
验证
147,000
妊娠
NIPT by GenePlanet检测经过独立验证。最大规模的NIPT临床应用研究纳入了超过14.7万例妊娠受检者。
下方是选定研究的数据示例。更多信息请查看页面底部的已发表报告部分。示例列出了来自31篇NIPT相关论文的部分数据。
21、18、13三体非侵入性产前检测 - 146,958例妊娠的临床经验
Wei Wang et al., Journal of Ultrasound in Obstetrics and Gynecology
146,958例已知妊娠结局的样本总数
水平滑动显示更多 | 三体综合征 | 三体综合征 | 三体综合征 | 三体综合征 | ||
|---|---|---|---|---|---|---|
三体综合征 | T21 | T18 | T13 | 总计 | ||
真阳性结果 | 720 | 167 | 22 | 909 | ||
假阳性结果 | 61 | 51 | 45 | 157 | ||
检出率 | 99.17% | 98.24% | 100% | 99.02% | ||
特异性 | 99.95% | 99.95% | 99.96% | 99.86% | ||
阳性预测值（PPV） | 92.19% | 76.61% | 32.84% | 85.27% | ||
阴性预测值（NPV） | 99.99% | 100% | 100% | 99.99% | ||
样本采集时间为2011年1月至2013年8月。这项研究发表在科学期刊《妇产科超声》上。
胎儿染色体异常的无创产前检测：对单个中心1,982例连续病例的回顾
Lau T. K. et al, ‘Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center’, Ultrasound Obstet Gynecol 2014; 43: 254–264
水平滑动显示更多 | 高风险 | 高风险 | 高风险 | 高风险 | ||
|---|---|---|---|---|---|---|
T21 | T18 | T13 | 总计 | |||
受检样本 | 23 | 4 | 2 | 1982 | ||
核型分析 | 23 | 4 | 2 | 29 | ||
随访调查 | 0 | 0 | 0 | 1645 | ||
检出率 | 100% | 100% | 100% | - | ||
特异性 | 100% | 100% | 100% | - | ||
假阴性率 | 0% | 0% | 0% | - | ||
假阳性率 | 0% | 0% | 0% | - | ||
NIPT检测的大规模验证：11,105例妊娠中的21-和18-三体综合征
Dan S. et al, ‘Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors.’ Prenat. Diagn., 32: 1225–1232. doi: 10.1002/pd.4002
水平滑动显示更多 | 阳性结果 | 阳性结果 | 阳性结果 | 阴性结果 | 阳性结果 | 阴性结果 | |||
|---|---|---|---|---|---|---|---|---|---|
病例数量 | T21 | T18 | T13 | 三体综合征（21、18、13） | |||||
NIPT positive | 11,105 | 140 (3) | 42 (5) | 0 | 10,915 | ||||
核型分析 | 182 + 2818 | 139 | 41 | 0 | 2820 | ||||
假阳性率 | 0.03% | 0.03% | N/A | ||||||
检出率 | 100.00% | 100.00% | N/A | ||||||
特异性 | 99.97% | 99.97% | N/A | ||||||
* 对182名NIPT阳性女性和2818名NIPT阴性女性进行后续验证核型分析。在接受NIPT检测的11,105名女性中，有8,097名女性不愿接受用于核型分析的有创操作。[参考文献8]
NIPT检测的双盲验证
3,464份NIPT血液样本的双盲验证
水平滑动显示更多 | 三体综合征 | 三体综合征 | 三体综合征 | 三体综合征 | ||
|---|---|---|---|---|---|---|
T21 | T18 | T13 | ||||
NIPT阳性 | 189 | 64 | 10 | |||
核型分析阳性 | 188 | 63 | 10 | |||
假阳性数量 | 1* | 1* | 0 | |||
假阴性数量 | 0 | 0 | 0 | |||
检出率 | 100.00% | 100.00% | 100.00% | |||
特异性 | 99.97% | 99.97% | 100.00% | |||
假阳性率 | 0.03% | 0.029% | 0.00% | |||
假阴性率 | 0.00% | 0.00% | 0.00% | |||
阳性预测率 | 99.49% | 98.44% | 100.00% | |||
* 因测序深度不足引起
关于NIPT的定位陈述和指导原则
2012年10月
International Society for Prenatal Diagnosis ISPD
Prenat Diagn 2012;32:1-2
2012年12月
The American College of Obstetricians and Gynecologists Committee on Genetics and The Society for Maternal-Fetal Medicine Publications Committee ACOG
已发表报告
临床和验证研究
Non-invasive Prenatal Testing for Trisomy 21, 18 and 13 - Clinical Experience from 146,958 Pregnancies
Accurate Description of DNA-Based Noninvasive Prenatal Screening
Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing
Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors
Prenatal Detection of Aneuploidy and Imbalanced Chromosomal Arrangements by Massively Parallel Sequencing
Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies
Non invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing large scale validity study
Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing
Feasibility study of semiconductor sequencing for noninvasive prenatal detection of fetal aneuploidy
Non-invasive Prenatal Testing of Trisomies 21 and 18 by Massively Parallel Sequencing of Maternal Plasma DNA in Twin Pregnancies
Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue
False-negative trisomy 18 non-invasive prenatal test result due to 48,XXX,+18 placental mosaicism
Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole-genome sequencing as a clinical service
双胎妊娠
Effective Noninvasive Zygosity Determination by Maternal Plasma Target Region Sequencing
缺失综合征
A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing
单基因疾病
Noninvasive Prenatal Detection for Pathogenic CNVs: The Application in a-Thalassemia
Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with Maple syrup urine disease
Haplotype-assisted accurate noninvasive fetal whole-genome recovery through maternal plasma sequencing
非整倍体
Non-invasive prenatal screening of fetal sex chromosomal abnormalities: perspective of pregnant women
Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X
妊娠先天性畸形
Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of congenital deafness
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