For medical
specialists
VeriSeq™ NIPT Solution v2 – one of the most reliable non-invasive prenatal tests on the market
The specificity and sensitivity of the test reach >99.9%
To ensure the best care for your patients throughout pregnancy, NIPT becomes indispensable. Currently VeriSeq™ NIPT Solution v2 is one of the most reliable NIPT tests on the market [1]. By examining all 23 pairs of chromosomes, this test provides detailed information about the fetal genome, allowing for detailed and necessary insights early in the patient's pregnancy.
Comprehensive
The test allows the identification of all chromosomal disorders in the fetus, including large (≥7Mb) deletions and duplications present in the fetal genome.
Accurate
Thanks to Illumina next-generation sequencing technology, the NIPT test detects trisomies 21, 18 and 13 with ≥99.9% accuracy [3].
Reliable
The test is conducted in a modern Illumina-certified laboratory, operating according to ISO 15189:2023 standards.
Safe
The test is non-invasive, so there are no risks of miscarriage or other complications.
Confirmed
VeriSeq™ NIPT Solution v2 performance confirmed by large-scale clinical research data [2,4,5].
Early
The test is carried out from the 10th week of pregnancy; early results give more time to discuss the further course of the pregnancy with the patient.
Clinical efficacy data
| Trisomy of chromosome 21 | Trisomy of chromosome 18 | Trisomy of chromosome 13 | Aneuploidy of all autosomes | Partial deletions and duplications | |
|---|---|---|---|---|---|
|
Sensitivity |
> 99.9 % |
> 99.9 % |
> 99.9 % |
96,4 % |
74,1 % |
|
Sensitivity |
> 99.90 % |
> 99.90 % |
> 99.90 % |
99,80 % |
99,80 % |
| Jautrumas | Specifiškumas | |
|---|---|---|
|
Trisomy of chromosome 21 |
> 99.9 % |
> 99.90 % |
|
Trisomy of chromosome 18 |
> 99.9 % |
> 99.90 % |
|
Trisomy of chromosome 13 |
> 99.9 % |
> 99.90 % |
|
Aneuploidy of all autosomes |
96,4 % |
74,1 % |
|
Dalinės delecijos ir duplikacijos |
99,80 % |
99,80 % |
Limitation of responsibility: VeriSeq™ NIPT Solution v2 sensitivity and specificity for trisomy detection of chromosomes 21, 18 and 13 are indicated in singleton pregnancies (excluding known cases of mosaicism). Source: VeriSeq™ NIPT Solution v2 Package Insert (Thanks to Illumina, Inc. 2021 m.)
According to the latest ACOG/SMFM guidelines, NIPT testing is recommended for all pregnant women, regardless of whether the pregnancy is low or high risk. [1].
„
Detection of circulating non-cellular fetal DNA (NIPT) and the possibility of diagnostic tests should be discussed and offered to all patients in early pregnancy, regardless of maternal age or level of pregnancy risk.
“
„
Circulating non-cellular DNA detection [NIPT] is the most sensitive and specific screening test used to detect the most common fetal aneuploidies (chromosome 21, 13 and 18 aneuploidy); NIPT can be performed at any time of pregnancy from 9-10 weeks of pregnancy.
“
- ACOG/SMFM Clinical Practice Guidelines for Obstetricians and Gynecologists [1].
Test procedure
7-10 mL of pregnant peripheral whole blood is collected into a STRECK Cell-Free DNA BCT® CE tube using 21G or 22G needles recommended by the manufacturer.
Plasma is separated from the blood by centrifugation, which is further used in cfDNA purification.
Purification of cfDNA is performed by adsorbing nucleic acids onto a binding plate column membrane, which is then washed to remove impurities. Finally, elution of the cfDNA from the membrane is performed.
Using unique specific adapters, a cfDNA library is prepared for each sample as needed sekoskaitos etapui.
The concentration of the prepared libraries is then assessed using an intercalating fluorescent dye. Using the raw fluorescence scan data, the sample concentration is calculated using a R software script.
Finally, after calculating the sample concentrations with the help of an R script for sequencing the required amount of sample, the prepared libraries are combined into a common pool pool).
When sequencing pooled cfDNA libraries, sequences are read from both ends of the molecule ( paired-end sequencing). In this way, twice as much data is generated in the same amount of time as when reading sequences from only one side single-end sequencing. This allows extremely fast and efficient determination of the lengths of all cfDNA fragments in each sample. These data VeriSeq the algorithm used in the NIPT assay software analyzes specifically the shorter fragments to increase the fetal cfDNA signal.
During this step, the reads of the genome under study are filtered according to strict quality criteria and compared to the reference genome. VeriSeq A sophisticated advanced algorithm applied by the NIPT software allows for the estimation of the number of reads for each chromosome. The obtained result reflects the normalized coverage of the examined chromosome or subchromosomal region coverageand serves for the detection and differentiation of aneuploidy and copy number variations. The software also provides an estimate of the fetal fraction for each sample, which, together with coverage and other statistics generated during the sequencing, is used to assess aneuploidy status with high precision.
After data analysis, VeriSeq NIPT software generates an "Aneuploidy Detected" or "Aneuploidy Detected" response for each chromosome in each sample.
If CNVs are detected, the report indicates the exact coordinates in the genome.
The generated test response is provided to the customer.
01
Blood sampling
7-10 mL of pregnant peripheral whole blood is collected into a STRECK Cell-Free DNA BCT® CE tube using 21G or 22G needles recommended by the manufacturer.
02
Plasma separation
Plasma is separated from the blood by centrifugation, which is further used in cfDNA purification.
03
Preparation of cfDNA libraries
Purification of cfDNA is performed by adsorbing nucleic acids onto a binding plate column membrane, which is then washed to remove impurities. Finally, elution of the cfDNA from the membrane is performed.
Panaudojant unikalius specifinius adapterius kiekvienam mėginiui ruošiama cfDNR biblioteka, reikalinga sekoskaitos etapui.
The concentration of the prepared libraries is then assessed using an intercalating fluorescent dye. Using the raw fluorescence scan data, the sample concentration is calculated using a R software script.
Galiausiai, R skripto pagalba iš mėginio koncentracijų apskaičiavus sekoskaitai reikalingą mėginio kiekį, paruoštos bibliotekos sujungiamos į bendrą telkinį (angl. pool).
04
Sequencing
When sequencing pooled cfDNA libraries, sequences are read from both ends of the molecule ( paired-end sequencing). In this way, twice as much data is generated in the same amount of time as when reading sequences from only one side single-end sequencing. This allows extremely fast and efficient determination of the lengths of all cfDNA fragments in each sample. These data VeriSeq the algorithm used in the NIPT assay software analyzes specifically the shorter fragments to increase the fetal cfDNA signal.
05
Data analysis
During this step, the reads of the genome under study are filtered according to strict quality criteria and compared to the reference genome. VeriSeq A sophisticated advanced algorithm applied by the NIPT software allows for the estimation of the number of reads for each chromosome. The obtained result reflects the normalized coverage of the examined chromosome or subchromosomal region coverageand serves for the detection and differentiation of aneuploidy and copy number variations). Programinė įranga taip pat pateikia kiekvieno mėginio vaisiaus frakcijos įvertinimą, kuris kartu su padengimu ir kitais sekoskaitos metu sugeneruotais statistiniais rodikliais, naudojamas siekiant ypač tiksliai įvertinti aneuploidijos statusą.
06
Submission of answers
After data analysis, VeriSeq NIPT software generates an "Aneuploidy Detected" or "Aneuploidy Detected" response for each chromosome in each sample.
If CNVs are detected, the report indicates the exact coordinates in the genome.
The generated test response is provided to the customer.
How VeriSeq™ NIPT Solution v2?
The video briefly explains the principle of the test and discusses in detail the 3 main stages of the study.
EN
>99%
The most accurate screening test for the determination of trisomies of chromosomes 21, 18 and 13 [1, 6-8].
Performed
from
10
week
Determination of the genetic condition of the fetus from the 10th week of pregnancy [1].
procedure
Ženkliai mažesnis invazinių procedūrų skaičius nepaveiktų nėštumų atveju [6-10].
The sources
- Rose NC, et al. Obstet Gynecol, 2020, doi: 10.1097/AOG.0000000000004084.
- Van Opstal D, et al. Genet Med. 2018, doi: 10.1038/gim.2017.132.
- Pertile MD, et al. Clin Chem. 2021, doi: 10.1093/clinchem/hvab067.
- Pertile MD. Genome-wide cell-free DNA-based prenatal testing for rare autosomal trisomies and subchromosomal abnormalities. In: Page-Christiaens L, Klein H-G, eds. Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis. London, United Kingdom: Academic Press Elsevier; 2018:97-123.
- Harasim T, et al. Clin Med. 2022, doi: 10.3390/jcm11020372.
- Bianchi DW, et al. N Engl J Med. 2014, doi: 10.1056/NEJMoa1311037
- Gil MM, et al. Ultrasound Obstet Gynecol. 2017, doi: 10.1002/uog.17484.
- Chudova DI, et al. N Engl J Med. 2016 https://pubmed.ncbi.nlm.nih.gov/27406371/
- Platt LD, et al. Am J Obstet Gynecol. 2014, doi: 10.1016/j.ajog.2014.03.065.
- Larion S, et al. Obstet Gynecol. 2014, doi: 10.1097/AOG.0000000000000275
