使用NIPT进行实验室筛查

More from your lab with VeriSeq NIPT Solution v2

Provide clinicians with a comprehensive menu of prenatal screening options including:1

Trisomy 21, 18, 13
Rare autosomal aneuploidies (RAAs)
Sex Chromosome Abnormalities (SCAs)
Partial duplications AND deletions ≥7MB for all autosomes

VeriSeq NIPT Solution v2 scales according to your lab’s needs, through customized menu selection for each individual sample and versatile batch options. With a long-lasting partnership committed to your lab’s growth and continued success, together, we can shape the future of prenatal testing.

Deliver ease, accuracy, and speed to your lab with an end-to-end workflow, high accuracy, and low failure rates with VeriSeq NIPT Solution v2.

Bring VeriSeq NIPT Solution v2 Into Your Lab

VeriSeq NIPT Solution v2 delivers high accuracy with ≥99.9% sensitivity and specificity.2 Results that you and your clinicians can trust.

  Trisomy 21b2 Trisomy 182 Trisomy 132 RAAc2 Partial Duplications and Deletions ≥7 MB2
Sensitivitya >99.9% >99.9% >99.9% 96.4% 74.1%
Specificity >99.90% >99.90% >99.90% >99.80% >99.80%

 

  • a. Basic screen performance is reported for T21, T18, and T13 and excludes 16 samples with known mosaics and 49 samples affected with anomalies for the genome-wide screen only; genome-wide screen performance is reported for RAAs and CNVs.2
  • b. Seven twin pregnancies reported correctly as T21 are not shown in the table.2
  • c. RAA excludes chromosomes 21, 18, and 132

 

Performance backed by published clinical experience data from over 40,000 samples2,4—6

Screening with VeriSeq NIPT includes dynamic fetal fraction measurement, which means lower failure rates, fewer redraws, trusted results for the clinician, and more answers delivered earlier to expecting families.2

Results in 26 hours when you choose VeriSeq NIPT Solution v23

From sample to result, all it takes is 1 technician and 2 hours of hands-on time to deliver results in about 1 day.

Rest assured that you can report timely prenatal screening results to your clinicians. The dedicated service and support team at Illumina is available for on-site assistance and phone and email communication when you need it the most.

  Sample and Library Prep Sequencing Data Analysis and Report Generation Total Overall Time
Hands-On Time ~2 hours ~15 minutes   ~2.25 hours
Total Time ~8 hours ~14 hours ~4 hours ~26 hours

Actual times depend on individual lab practices and may vary; the depiction shown represents a 48-sample workflow.

Choose VeriSeq NIPT Solution v2 for the NIPT offering that fits easily into your lab

Versatile batch options for 24, 48, or 96 samples per run

Customized menu selections for each sample

VeriSeq NIPT Solution v2 is a complete end-to-end in vitro diagnostic system that enables a streamlined workflow. It’s a simple, easy-to-use, automated prenatal screening solution that easily integrates into your lab’s current workflow and flexes with your lab’s growing needs. This next-generation sequencing-based, PCR-free platform provides a small footprint and less complexity for the lab.

The workflow that works with you:

Ease

A simple, easy-to-use, automated system seamlessly integrates into your lab’s current workflow, and flexes with your lab’s growing needs.1

Accuracy

This in-lab IVD NIPT assay solution delivers high accuracy with a ≥99.9% sensitivity and specificity, for results that you and your clinicians can trust.2

Speed

Results are delivered in approximately 26 hours with only 2 hours of hands-on time—clinicians and expectant families get answers faster.3

View Video

Resources

Learn more about VeriSeq NIPT Solution v2 and how it can fit into your lab.

VeriSeq NIPT Solution v2 and Your Lab

Download the VeriSeq NIPT Solution v2 brochure.

NIPT Technology Guide

Find the right fit for your lab with Illumina by exploring key considerations.

The Value of NIPT with Illumina

Learn how NIPT has become the standard for prenatal screening.

The NIPT Process with VeriSeq Solution v2

Delve into the NIPT process step by step.

Intended Use

The VeriSeq NIPT Solution v2 is an in vitro diagnostic test intended for use as a screening test for the detection of genome-wide fetal genetic anomalies from maternal peripheral whole blood specimens in pregnant women of at least 10 weeks gestation. VeriSeq NIPT Solution v2 uses whole-genome sequencing to detect partial duplications and deletions for all autosomes and aneuploidy status for all chromosomes. The test offers an option to request the reporting of sex chromosome aneuploidy (SCA). This product must not be used as the sole basis for diagnosis or other pregnancy management decisions.

Limitations of the Test

Noninvasive prenatal testing (NIPT) based on cell-free DNA analysis from maternal blood is a screening test; it is not diagnostic. False positive and false negative results do occur. Test results must not be used as the sole basis for diagnosis. Further confirmatory testing is necessary prior to making any irreversible pregnancy decision. A negative result does not eliminate the possibility that the pregnancy has a chromosomal or sub chromosomal abnormality. This test does not screen for polyploidy (eg, triploidy), birth defects such as open neural tube defects, single gene disorders, or other conditions, such as autism. There is a small possibility that the test results might not reflect the chromosomal status of the fetus, but may instead reflect chromosomal changes in the placenta (confined placental mosaicism, CPM) or the mother that may or may not have clinical significance.

References
  1. VeriSeq NIPT Solution v2 [package insert]. San Diego, CA: Illumina; 2021.
  2. Pertile MD, Flowers N, Vavrek D, et al. Performance of a paired-end sequencing-based noninvasive prenatal screening test in the detection of genome-wide fetal chromosomal anomalies. Clin Chem. 2021;67(9):1210-1219.
  3. VeriSeq NIPT Solution v2 [data sheet]. San Diego, CA: Illumina; 2021.
  4. Borth H, Teubert A, Glaubitz R, et al. Analysis of cell-free DNA in a consecutive series of 13,607 routine cases for the detection of fetal chromosomal aneuploidies in a single center in Germany. Arch Gynecol Obstet. 2021;303:1407-1414.
  5. Eiben B, Borth H, Kutur N, et al. Clinical experience with noninvasive prenatal testing in Germany: analysis of over 500 high-risk cases for trisomy 21, 18, 13, and monosomy X. Obstet Gynecol Rep. 2021;5:1-7.
  6. Kleinfinger P, Lohmann L, Luscan A, et al. Strategy for use of genome-wide non-invasive prenatal testing for rare autosomal aneuploidies and unbalanced structural chromosomal anomalies. J Clin Med. 2020;9(8);2466.
用途

VeriSeq NIPT v2是体外诊断检测,用于通过妊娠10周及以上的孕妇的外周全血标本进行全基因组范围的胎儿遗传异常筛查。VeriSeq NIPT v2利用全基因组测序来检测所有常染色体的部分重复与缺失,以及所有染色体的非整倍体状态。该检测还可提供性染色体非整倍体(SCA)的报告。本产品不得用作诊断或其他妊娠管理决策的唯一依据。

检测限制

基于孕妇外周血游离DNA分析的无创产前检测(NIPT)是一种筛查检测,并非诊断方法。确实会出现假阳性和假阴性结果。检测结果不得作为诊断的唯一依据。在做出任何不可逆的妊娠决策之前,务必进行进一步的确认性检测。阴性结果不能排除妊娠有染色体或亚染色体异常的可能性。此检测不筛查多倍体(例如三倍体)、出生缺陷(例如开放性神经管缺陷、单基因疾病或自闭症等其他疾病)。检测结果有可能不反映胎儿的染色体状态,而是反应胎盘(限制性胎盘嵌合,CPM)或母亲的染色体变化(这种可能性很小),这样的检测结果可能具有或不具有临床意义。