Clinical validation of a novel automated cell‐free DNA screening assay for trisomies 21, 13, and 18 in maternal plasma

Ericsson, Olle; Ahola, Tarja; Dahl, Fredrik A.; Karlsson, Filip; Persson, Fredrik; Karlberg, Olof; Roos, Fredrik; Alftrén, Ida; Andersson, Björn; Barkenäs, Emelie; Boghos, Ani; Brandner, Birgit D.; Dahlberg, Jenny; Forsgren, Per-Ola; Francois, Niels; Gousseva, Anna; Hakamali, Faizan; Janfalk-Carlsson, Åsa; Johansson, Henrik; Lundgren, Johanna; Mohsenchian, Atefeh; Olausson, Linus; Olofsson, Simon; Qureshi, Atif; Skarpås, Björn; Svahn, Peter; Sävneby, Anna; Åström, Eva; Sahlberg, Anna S.; Fianu-Jonasson, Aino; Gautier, Jérémie; Costa, Jean‐Marc; Jacobsson, Bo; Nicolaides, Kypros H.

doi:10.1002/pd.5528

Cited by 25 publications

(38 citation statements)

References 15 publications

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“…The first pass failure rate of 1.5% in this study was higher than what has previously been reported for this technology, 6 , 7 but still significantly lower than most other technologies and is comparable to that of massive parallel sequencing‐based NIPT methods, which showed the lowest average failure rate based on a meta‐analysis of NIPT failure rates. 2 By also employing a repeat‐testing approach with this technology, the effective failure rate in this study was reduced by 87% to 0.2%.…”

Section: Discussioncontrasting

confidence: 48%

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Evaluation of repeat testing of a non‐sequencing based NIPT test on a Finnish general‐risk population

Karlsson¹,

Ahola²,

Dahlberg³

et al. 2021

Acta Obstet Gynecol Scand

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Since the introduction of cell-free DNA (cfDNA) based non-invasive prenatal testing (NIPT) over the last decade, numerous studies have reported on its screening performance in terms of detection rate and false-positive rate. 1 Another NIPT performance metric that is sometimes overlooked is the test failure (or no-call) rate. In addition to being confusing for the woman and physician receiving such a result, failures also negatively affect the actual sensitivity or detection rate of the test because a proportion of failures can be assumed to be trisomy cases. This can be illustrated by considering a hypothetical NIPT test with 100% Trisomy 21 (T21) detection rate at varying failure rates, similar to that previously presented by Yaron. 2 For a failure rate of 1%, 5%, or 10%, the corresponding actual detection rate of the screened population will deteriorate to 99%, 95%, and 90%, respectively, if

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Section: Discussioncontrasting

confidence: 48%

“…The Vanadis NIPT test used in this study has previously been validated with a low failure rate on a high‐risk population. 6 The present study was carried out to evaluate test performance in a general‐risk population. In addition, a screening strategy to reduce the test failure rate through repeat testing was evaluated.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of repeat testing of a non‐sequencing based NIPT test on a Finnish general‐risk population

Karlsson¹,

Ahola²,

Dahlberg³

et al. 2021

Acta Obstet Gynecol Scand

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“…Vanadis ® NIPT is a new technology targeting relevant chromosomes, based on digital molecular quantification in a 96-well microplate [7,8]. The method converts targeted chromosomal fragments into digitally quantifiable objects through rolling-circle replication and chromosome-specific labeling.…”

Section: Introductionmentioning

confidence: 99%

Assessment and Clinical Utility of a Non-Next-Generation Sequencing-Based Non-Invasive Prenatal Testing Technology

Görmüş¹,

Chaubey

Shenoy

et al. 2021

CIMB

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Background: Rolling-circle replication (RCR) is a novel technology that has not been applied to cell-free DNA (cfDNA) testing until recently. Given the cost and simplicity advantages of this technology compared to other platforms currently used in cfDNA analysis, an assessment of RCR in clinical laboratories was performed. Here, we present the first validation study from clinical laboratories utilizing RCR technology. Methods: 831 samples from spontaneously pregnant women carrying a singleton fetus, and 25 synthetic samples, were analyzed for the fetal risk of trisomy 21 (T21), trisomy 18 (T18) and trisomy 13 (T13), by three laboratories on three continents. All the screen-positive pregnancies were provided post-test genetic counseling and confirmatory diagnostic invasive testing (e.g., amniocentesis). The screen-negative pregnancies were routinely evaluated at birth for fetal aneuploidies, using newborn examinations, and any suspected aneuploidies would have been offered diagnostic testing or confirmed with karyotyping. Results: The study found rolling-circle replication to be a highly viable technology for the clinical assessment of fetal aneuploidies, with 100% sensitivity for T21 (95% CI: 82.35–100.00%); 100.00% sensitivity for T18 (71.51–100.00%); and 100.00% sensitivity for T13 analyses (66.37–100.00%). The specificities were >99% for each trisomy (99.7% (99.01–99.97%) for T21; 99.5% (98.62–99.85%) for T18; 99.7% (99.03–99.97%) for T13), along with a first-pass no-call rate of 0.93%. Conclusions: The study showed that using a rolling-circle replication-based cfDNA system for the evaluation of the common aneuploidies would provide greater accuracy and clinical utility compared to conventional biochemical screening, and it would provide comparable results to other reported cfDNA methodologies.

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“…Furthermore, regarding the detection of autosomal trisomies (involving chromosomes 21, 18 and 13), low-cost methods are being developed, such as selectively amplifying only a specific region of the target chromosome and analyzing it using microarrays, 49 quantitative PCR analysis and selectively coloring and quantifying only a specific region of the target chromosome. 50 Furthermore, tests for detecting monogenic diseases have also been clinically applied, and the number of target diseases is increasing.…”

Section: Discussionmentioning

confidence: 99%

Update on noninvasive prenatal testing: A review based on current worldwide research

Samura

2020

J of Obstet and Gynaecol

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Eight years have passed since noninvasive prenatal testing (NIPT) was clinically evaluated and data on NIPT for trisomy 21, 18 and 13 were collected. The data revealed that NIPT is more accurate than conventional first‐trimester screening. However, there is still insufficient data regarding the clinical use of NIPT results in detecting sex chromosome aneuploidies or whole‐genome regions. NIPT is already being used as a clinical screening method globally. However, it is an unconfirmed diagnostic test and the results must be interpreted with caution as they may yield false negatives, false positives or inconclusive results. Therefore, the aim of this review is to highlight the current status of information, including the different methodologies, shortcomings and implications, regarding NIPT after its adoption worldwide. It is important to include genetic counseling when implementing NIPT. Going forward, the knowledge obtained to date, including the associated shortcomings, must be considered in evaluating the effectiveness of NIPT in detecting genetic abnormalities.

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Clinical validation of a novel automated cell‐free DNA screening assay for trisomies 21, 13, and 18 in maternal plasma

Cited by 25 publications

References 15 publications

Evaluation of repeat testing of a non‐sequencing based NIPT test on a Finnish general‐risk population

Evaluation of repeat testing of a non‐sequencing based NIPT test on a Finnish general‐risk population

Assessment and Clinical Utility of a Non-Next-Generation Sequencing-Based Non-Invasive Prenatal Testing Technology

Update on noninvasive prenatal testing: A review based on current worldwide research

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