The Sage™ Prenatal Screen is a non-invasive prenatal screening solution to estimate the risk of a fetus having Trisomy 21, Trisomy 18, Trisomy 13, Rare Autosomal Aneuploidies (RAA), Sex Chromosome Aneuploidies (SCA) and the most clinically relevant microdeletions.
The Sage™ Prenatal Screen is a Safe, Accurate, Genetic Evaluation of placental DNA in maternal blood using Next Generation Sequencing technology, to estimate the risk of a fetus having Trisomy 21, Trisomy 18, Trisomy 13, Rare Autosomal Aneuploidies (RAA), Sex Chromosome Aneuploidies (SCA) and the most clinically relevant microdeletions
Sage™ Prenatal Screen has a menu-based approach to cell-free DNA (cfDNA) screening, where upon consultation with the pregnant mother, the healthcare professional can select which chromosome disorders to screen for and can customise it for each patient depending on their background, maternal history and wishes. The Sage™ Prenatal Screen can deliver results from 3 to 5 days.
The Sage™ Prenatal Screen estimates the risk of a fetus having Down’s syndrome (Trisomy 21), Edwards’ syndrome (Trisomy 18) and Patau’s syndrome (Trisomy 13). In addition, a genome-wide aneuploidy detection analysis on the remaining chromosomes can be carried out and reported.
Upon request, the following sex chromosome aneuploidies can be screened for:
Microdeletion syndrome is caused by the absence of a small portion of genetic material in the chromosome. They can vary greatly in severity, with the symptoms of microdeletions ranging from minimal developmental delays to sever anomalies e.g. cardiac defects, neurological malformations etc.
Upon request, the following rare microdeletions can be screened for:
Upon request, the fetal sex can be determined with >99% accuracy.
The Sage™ Prenatal Screen analyses and reports the amount of placental cfDNA circulating in the maternal blood stream and reports this as fetal fraction. Some pregnant women may have too little fetal (placental) DNA available for analysis which is reported as “low fetal fraction”. There may be several reasons for this; for instance, women with a high maternal weight may have increased blood volume which could result in a dilution of the cell-free placental DNA in the maternal plasma.
The Sage™ Prenatal Screen incorporates clever bioinformatics software that is able to produce valid and accurate results in samples that have as little as 3.5% fetal fraction.
Yourgene provides safe and accurate NIPT screening solutions across multiple platforms, enabling us to meet your laboratory’s testing needs. We have two Sage™ NIPT workflows, Sage™ 12 NIPT workflow or Sage™ 32 NIPT Workflow, depending on your requirements, facilitating a more efficient workflow and improved performance, saving you time and money.
Please note that Sage™ Prenatal Screen is not available for sale in the United States.
The Sage™ Prenatal Screen is a simple, fast process that can be run by any trained technician. The Sage™ 12 NIPT Workflow is ideal for low to medium volume sample throughput laboratories, enabling laboratories to build up volumes and then transition seamlessly onto the Sage™ 32 NIPT Workflow to meet the rising demand for testing.
The Sage™ 12 NIPT Workflow is a manual, low cost, flexible solution for core trisomy screening, which enables 12 samples to be run simultaneously. As demand rises this workflow is easily scalable to the Sage™ 32 NIPT Workflow which offers both manual and automated options, increasing flexibility, scalability and sequencing efficiencies.
MagBench™ provides automated cfDNA extraction specifically for Sage™ 32 NIPT Workflow users. Consisting of bespoke instrumentation with dedicated extraction kits, this fast bench-top solution delivers significant benefits in a hands-off format and is a convenient, streamlined choice for customers who are running a high-throughput NIPT service.
The Sage™ 32 NIPT Workflow enables 32 samples to be processed in one sequencing chip and utilises the Yourgene® QS250, powered by Ranger® Technology. Ranger® Technology allows automated high-throughput target enrichment of cfDNA NGS library constructs prior to sequencing, enabling great improvements in fetal fraction enrichment.
In NIPT, Ranger® Technology next generation size selection and enrichment enables labs to get the results they are looking for first time, reducing failure rates and improving precision, enabling more pregnant mothers to receive a safe, fast and accurate screening result.
In addition to next generation size selection, the Yourgene® QS250 also allows fragment analysis and solution-based fluorescence quantification assays with a single piece of equipment, giving greater cost efficiencies for the laboratory.
Both Sage™ Workflows run on the Ion Torrent sequencing system from Thermo Fisher Scientific.
The Sage™ analysis uses Sage™ Link which is a cloud-based bioinformatics portal. The resulting data is processed so that a small data file can be easily, quickly and safely uploaded to Sage™ Link. After a brief time, individual patient reports are ready for download. Each report is easy to follow and is signed by the laboratory once it is finalised.
The performance of the Sage™ Prenatal Screen is assessed by collecting data from laboratories and clinics using the Sage™ 32 or Sage™ 12 NIPT Workflows to screen for trisomy 21, trisomy 18, trisomy 13, Rare Autosomal Aneuploidies (RAA), Sex Chromosome Aneuploidies (SCA) and the most clinically relevant microdeletions.
| Sensitivity | Specificity | PPV | NPV | FPR | FNR | |
|---|---|---|---|---|---|---|
|
Trisomy 21
(152) |
98.06%
(152 / 155) 95%CI: 94.45-99.60 |
>99.99%
(15607 / 15607) 95%CI: 99.98-100% |
>99.99%
|
99.98%
|
<0.01%
|
1.97%
|
|
Trisomy 18
(53) |
>99.99%
(53 / 53) 95%CI: 93.28-100% |
99.98%
(15706 / 15709) 95%CI: 99.94-100% |
94.92%
|
>99.99%
|
0.019%
|
<0.01%
|
|
Trisomy 18
(53) |
>99.99%
(53 / 53) 95%CI: 93.28-100% |
99.98%
(15706 / 15709) 95%CI: 99.94-100% |
94.92%
|
>99.99%
|
0.019%
|
<0.01%
|
|
Trisomy 13
(26) |
>99.99%
(26 / 26) 95% CI: 86.77-100% |
99.99%
(15734 / 15736) 95%CI: 99.95-100% |
93.33%
|
>99.99%
|
0.013%
|
<0.01%
|
|
SCAs
(122) |
97.60%
(122 / 125) 95% CI: 93.15-99.5% |
99.97%
(15633 / 15637) 95%CI: 99.93-99.99% |
96.92%
|
99.98%
|
0.026%
|
2.46%
|
|
AAs
(50) |
>99.99%
(50 / 50) 95%CI: 92.89-100% |
99.99%
(15710 / 15712) 95% CI: 99.95-100%) |
96.30%
|
>99.99%
|
0.013%
|
<0.01%
|
|
Microdeletions
(6) |
85.71%(6 / 7)
95%CI: 42.13-99.64% |
99.99%
(4184 / 4185) 95%CI: 99.91-100% |
>99.99%
|
99.98%
|
<0.01%
|
14.29%
|
|
Fetal Sex Determination
(7473) |
Accuracy
99.99% |
Discordance <0.01
|
-
|
-
|
-
|
-
|
Sage™ 32 NIPT Workflow performance observed following global post-market surveillance on 70,186 samples (singleton pregnancies):
| Sensitivity | Specificity | PPV | NPV | FPR | FNR | |
|---|---|---|---|---|---|---|
|
Trisomy 21
(1098) |
99.91%
(1098/1099) 95% CI: 99.49-100% |
>99.99%
(15607 / 15607) 95%CI: 99.98-100% |
>99.99%
|
99.99%
|
<0.01%
|
0.09%
|
|
Trisomy 18
(172) |
99.42%
(172/173) 95% CI: 96.82-99.99% |
99.98%
(15706 / 15709) 95%CI: 99.94-100% |
>99.99%
|
99.99%
|
<0.01%
|
0.58%
|
|
Trisomy 13
(1166) |
>99.99%
(116/116) 95% CI: 96.87-100% |
99.99%
(15734 / 15736) 95%CI: 99.95-100% |
>99.99%
|
>99.99%
|
<0.01%
|
<0.01%
|
|
SCAs
(529) |
>99.99%
(529/530) 95% CI: 99.31-100% |
99.97%
(15633 / 15637) 95%CI: 99.93-99.99% |
99.81%
|
>99.99%
|
0.014%
|
<0.01%
|
|
AAs
(185) |
>99.99%
(185/185) 95% CI: 98.03-100% |
99.99%
(15710 / 15712) 95% CI: 99.95-100%) |
>99.99%
|
>99.99%
|
<0.01%
|
<0.01%
|
|
Microdeletions
(3) |
>99.99%
(3/3) 95% CI: 29.24-100% |
99.99%
(4184 / 4185) 95%CI: 99.91-100% |
>99.99%
|
>99.99%
|
<0.01%
|
<0.01%
|
|
Fetal Sex Determination
(39177) |
Accuracy
>99.99% |
Discordance <0.01
|
-
|
-
|
-
|
-
|
Sage™ 32 NIPT Workflow performance observed following global post-market surveillance on 1,776 samples (twin pregnancies):
| Sensitivity | Specificity | PPV | NPV | FPR | FNR | |
|---|---|---|---|---|---|---|
|
Trisomy 21
(22) |
>99.99%
(22/22) |
>99.99%
(1754/1754) |
>99.99%
|
>99.99%
|
<0.01%
|
<0.01%
|
|
Trisomy 18
(1) |
>99.99%
(1/1) |
>99.99%
(1775/1775) |
>99.99%
|
>99.99%
|
<0.01%
|
<0.01%
|
|
Trisomy 13
(3) |
>99.99%
(3/3) |
>99.99%
(1773/1773) |
>99.99%
|
>99.99%
|
<0.01%
|
<0.01%
|
|
SCAs
(17) |
>99.99%
(17/17) |
>99.99%
(1759/1759) |
>99.99%
|
>99.99%
|
<0.01%
|
<0.01%
|
|
AAs
(4) |
>99.99%
(4/4) |
>99.99%
(1772/1772) |
>99.99%
|
>99.99%
|
<0.01%
|
<0.01%
|
Please note that all performance is dependent on laboratories reporting their discordant results to Yourgene Health. The number of samples screened for microdeletions is lower than for the other trisomies, SCAs or AAs. From data held on file by Yourgene Health, correct at time of publishing (31st October 2022).
Using the MagBench™ cfDNA Extraction Solution for Sage™ NIPT Workflow from Yourgene Health
In this edition of Your Expert, Yourgene Health interviewed Hanchiang Chin (HC) & You-Hsuan Lin (YHL), two superusers from within our Taipei laboratory on their thoughts and experiences using Yourgene Health’s MagBench™ cfDNA Extraction Solution to understand the key benefits of the system when used in combination with Non Invasive Prenatal Testing (NIPT) Workflows.
The Truth About Statistics in NIPT
Non-invasive prenatal testing (NIPT) is a relatively new tool in prenatal care, helping clinicians to assess the chance of fetal chromosomal abnormalities early in a pregnancy. It is more accurate than traditional screening techniques for common fetal aneuploidies – Down’s syndrome, Patau’s syndrome, and Edwards’ syndrome – and carries no associated miscarriage risk.
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