成就明智选择

“NIPT是不可思议的。它在这么小的风险下带给你这么多的信息。后顾无忧,这对我们来说非常不一样?!?/em>
– Talia and Dan
 

大乐透基本走势图:无创产前基因检测 (NIPT)

通过NIPT的基因组方案来推动革新

超级大乐透中奖规则 www.slf2t.cn 不断发展的无创筛查选择,如无创产前检测(NIPT),可以提供染色体疾病的早期筛查,它只需一管血,早在怀孕10周时即可进行。

其他类型的产前筛查和诊断检测可能需要多次看医生、多次抽血,或假阳性的风险更高。产前诊断检测,如绒毛膜取样(CVS)或羊膜穿刺,可以给出大多数染色体疾病的明确结果,但存在流产的风险。


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筛查常见的染色体疾病

Martin Chavez医学博士,一位母胎医学专家,对无创产前检测的讨论。

NIPT对母亲或婴儿的风险极小

NIPT分析血液样本中游离的胎儿和母体DNA,以筛查常见的染色体疾病,包括21三体(唐氏综合征)、18三体(Edwards综合征)和13三体(Patau综合征)。

NIPT对母亲或婴儿的风险极小,具有高的检测率和低的误报率。,美国妇产科医师学会(ACOG)和国际产前诊断协会(ISPD),以及其他的专业协会,都表示NIPT是适合所有孕妇的一个筛查选择。1,2

Verifi Prenatal Test就是这样一种无创检测,可对21号、18号和13号染色体的非整倍体进行筛查。对于单胎妊娠,它可提供额外的性染色体和特定微缺失的筛查。在双胎妊娠中,它提供21号、18号和13号染色体的非整倍体筛查和Y染色体缺失的筛查。结果在收到样本3-5天内报告。取决于需求,报告时间可进行调整。

文献:85,000个NIPT病例

一般产科人群中的无创产前检测:在85,000个病例上的临床表现和生育咨询考虑。
下载文献

Verifi的检测性能指标*

Verifi的检测性能指标对比。

*The improved Verifi prenatal test has performance metrics that are equivalent to those as the original Verifi prenatal test.

点击下面的 查看敏感性和特异性数据表

AD/AS样本的敏感性和特异性与已发表的验证指标对比
CLIA实验室 验证研究*
疾病 观察到的敏感性** (范围)*** 观察到的特异性** (范围)*** 敏感性 特异性
21三体 99.49% (98.66–99.53%) 99.77% (98.92–99.91%) 100% 99.76%
18三体 97.23% (94.20–98.15%) 99.69% (99.51–99.85%) 97.37% 99.57%
13三体 97.98% (95.56–98.87%) 99.84% (99.77-99.93%) 87.50% 100%

* Illumina. verifi Prenatal Test的分析验证:针对21、18和13三体的检测性能增强,且可选择对性染色体的状态进行分类。Illumina的白皮书。20122

** 观察到的敏感性和特异性是利用现有的结果数据计算的,其队列大小按照“已经过结果确诊的阳性病例的比例”而进行调整。

*** 范围的下限是基于假设所有未报告结果均为不一致结果,范围的上限则是基于假设所有未报告结果均为一致性结果而得出。

评估NIPT检测性能的指标

在患者进行非整倍体产前筛查之前和之后,检测性能指标都是必不可少的。
一项检测的敏感性和特异性可帮助您:

决定为患者提供哪些产前筛查选项

确定选择哪个实验室

将非整倍体筛查的好处和局限性告知患者(检测率和误报率)

Click on the below to view the sensitivity and specificity data table.

Performance Values Are Averaged Across Multiple NIPT Assays
Condition Sensitivity 95% CI Specificity 95% CI
Trisomy 21 99.2% 98.5-99.6% 99.91% 99.86–99.95%
Trisomy 18 96.3% 94.3–97.9% 99.87% 99.80–99.93%
Trisomy 13 91.0% 85.0–95.6% 99.87% 99.74–99.95%

NIPT performance for trisomies 21, 18, and 13 in singleton pregnancies as reported in a large, independent meta-analysis3

Data from a meta-analysis of 37 published NIPT studies between January 2011 and January 2015.

Statistics of Cell Free DNA Screening

Maternal fetal medicine specialist Dr. Tracy Prosen highlights the differences between screening and diagnostic prenatal tests.

Performance Metrics Considerations After Screening

Positive predictive values (PPV) based on performance metrics

Positive predictive value (PPV) refers to the proportion of positive test results that are truly positive. PPV is based on the sensitivity and specificity of the test and the prevalence of the condition in the population being tested. Because the prevalence of autosomal trisomies (e.g. trisomy 21) increases with maternal age, so do the PPVs.

The American College of Medical Genetics (ACMG) recommends that laboratories provide patient-specific PPV when reporting positive results.4 Our test reports provide this information.

For Verifi and Verifi Plus, if a woman receives an aneuploidy detected result for trisomy 21, trisomy 18, or trisomy 13 in a singleton pregnancy, the report will include a PPV based on the test’s sensitivity and specificity for the condition, maternal age, and gestational age.

Click on the below to view a sample test report

Sample Test Report
Chromosome Results PPV (%)
Chromosome 21 POSITIVE: Aneuploidy detected
Results consistent with pregnancy at increased risk for trisomy 21.
95%
Chromosome 18 NEGATIVE: No aneuploidy detected
Results consistent with two copies of chromosome 18.
 
Chromosome 13 NEGATIVE: No aneuploidy detected
Results consistent with two copies of chromosome 13.
 
 

While PPVs are lower in younger women, PPVs for NIPT will be higher than those of traditional serum screening at all maternal ages because NIPT has significantly higher specificity (a lower false positive rate).8

Alt Name

Why Prevalence Matters for PPVs

Because the prevalence of autosomal trisomies (eg, trisomy 21) increases with maternal age, so do the PPVs. Trisomy 21 is the most prevalent autosomal trisomy in live births. Thus, the PPVs are higher for trisomy 21 than for trisomies 18 and 13,

which are less common. The PPVs below are calculated based on age-related prevalence; the presence of other aneuploidy risk factors (e.g. ultrasound abnormalities) would likely increase the PPVs over those shown here.

ppv prevalence graph
ppv specificity graph
For patients with a positive NIPT result:

Counsel the patient about the NIPT results, the likelihood of a true positive (PPV), and the recommendation for confirmatory diagnostic testing.10,11

To calculate a patient’s individual PPV for sex chromosome aneuploidies, you may wish to use the PPV calculator endorsed by ACOG.12

Assessing Test Failure Rate

The Verifi Prenatal Test has the lowest failure rate in the industry of 0.1%, excluding administered failed samples—that means that 99.9% of the time a result is provided13. It uses next-generation sequencing to analyze cfDNA fragments across the whole genome, which has proven advantages over other NIPT methodologies such as targeted sequencing and array-based methods. Test failure rates are substantially lower with whole-genome sequencing versus other methodologies.13-16

That’s important, and clinically relevant, because not only do test failures negatively impact patient care, they also adversely affect test metric parameters such as sensitivity, specificity, and PPV. By choosing the verifi Prenatal Test, the clinical impact of failures can be reduced.13

Access PDF
verifi Prenatal Test Infographic

The Illumina Difference

We’re committed to providing laboratories and health care partners with comprehensive solutions and test options to improve human health. Published data shows, that NGS with whole-genome sequencing (WGS) is the NIPT technology of choice—when compared to targeted approaches.

With over 99.7% of NIPT samples in these studies run on Illumina NGS technology, we’re helping advance breakthrough in prenatal screening. It’s what makes the verifi Prenatal Test, with the lowest failure rate of any noninvasive prenatal test on the market, the best choice for patients.

Click on the below to view the samples run data table.

99.7% of NIPT Samples in Published Studies Were Run on Illumina NGS Systems (2011-2017)

Getting Started with NIPT

Learn more about our noninvasive prenatal testing solutions by selecting an option below.
Health Care Professionals

We offer comprehensive NIPT solutions for health care professionals.

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Clinical Labs

Explore NIPT solutions.

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References
  1. Committee Opinion No. 640: Cell-free DNA Screening for Fetal Aneuploidy. Obstet Gynecol. 2015;126(3):e31-37.
  2. Benn P, Borrell A, Chiu RWK, et al. Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn. 2015;35(8):725-734.
  3. Gil MM, Quezada MS, Revello R, Akolekar R, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2015;45(3):249-266.
  4. Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016;18(10):1056-1065.
  5. Gardner RJM, Sutherland GR, Shaffer LG. Parental age counseling and screening for fetal trisomy. Chromosome abnormalities and genetic counseling. 4 ed: Oxford University Press; 2012:403-416.
  6. Benn P, Curnow KJ, Chapman S, Michalopoulos SN, Hornberger J, Rabinowitz M. An Economic Analysis of Cell-Free DNA Non-Invasive Prenatal Testing in the US General Pregnancy Population. PLoS One. 2015;10(7):e0132313.
  7. Wellesley D, Dolk H, Boyd PA, et al. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe. Eur J Hum Genet. 2012;20(5):521-526.
  8. Bianchi DW, Parker RL, Wentworth J, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;370(9):799-808.
  9. Malone FD, Canick JA, Ball RH, et al. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med. 2005;353(19):2001-2011
  10. Committee Opinion No. 640: Cell-free DNA Screening for Fetal Aneuploidy. Obstet Gynecol. 2015;126(3):e31-37.
  11. Practice Bulletin No. 163: Screening for Fetal Aneuploidy. Obstet Gynecol. 2016;127(5):979-981.
  12. The American Congress of Obstetricians and Gynecologists. NIPT Cell Free DNA Screening Predictive Value Calculator. National Society of Genetic Counselors (NSGC) and Perinatal Quality Foundation (PQF). Endorsed December 2015. 2015; //www.acog.org/Resources-And-Publications/Endorsed-Documents. Accessed January 28, 2015.
  13. Taneja PA, Snyder HL, de Feo E, et al. Noninvasive prenatal testing in the general obstetric population: clinical performance and counseling considerations in over 85 000 cases. Prenat Diagn. 2016: 36(3): 237-43.
  14. McCullough RM, Almasri EA, Guan X, et al. Non-invasive prenatal chromosomal aneuploidy testing—clinical experience: 100,000 clinical samples. PLoS One. 2014: 9(10):e109173.
  15. Norton ME, Jacobsson B, Swamy GK, et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med. 2015: 372(17): 1589-97.
  16. Dar P, Curnow KJ, Gross SJ, et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol. 2014: 211(5): 527.e1-527.e17.
  17. Ryan A, Hunkapiller N, Banjevic M, et al. Validation of an Enhanced Version of a Single-Nucleotide Polymorphism-Based Noninvasive Prenatal Test for Detection of Fetal Aneuploidies. Fetal Diagn Ther. 2016;doi:10.1159/000442931
  18. Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn. 2011;31(1):7-15.
  19. Wald NJ, Rodeck C, Hackshaw AK, et al. SURUSS in perspective. Semin Perinatol. 2005;29(4):225-235.

The Verifi Prenatal Test was developed by, and its performance characteristics were determined by Verinata Health, Inc. a wholly owned subsidiary of Illumina, Inc. The VHI laboratory is CAP-accredited and certified under the Clinical Laboratory Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing. It has not been cleared or approved by the U.S. Food and Drug Administration.

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