Imaging single DNA molecules for high precision NIPT

被引：36

作者：

Dahl, Fredrik ^{[1
]}

Ericsson, Olle ^{[1
]}

Karlberg, Olof ^{[1
]}

Karlsson, Filip ^{[1
]}

Howell, Mathias ^{[1
]}

Persson, Fredrik ^{[1
]}

Roos, Fredrik ^{[1
]}

Stenberg, Johan ^{[1
]}

Ahola, Tarja ^{[1
]}

Alftren, Ida ^{[1
]}

Andersson, Bjorn ^{[1
]}

Barkenas, Emelie ^{[1
]}

Brandner, Birgit ^{[1
]}

Dahlberg, Jenny ^{[1
]}

Elfman, Sara ^{[1
]}

Eriksson, Magnus ^{[1
]}

Forsgren, Per-Ola ^{[1
]}

Francois, Niels ^{[1
]}

Gousseva, Anna ^{[1
]}

Hakamali, Faizan ^{[1
]}

Janfalk-Carlsson, Asa ^{[1
]}

Johansson, Henrik ^{[1
]}

Lundgren, Johanna ^{[1
]}

Mohsenchian, Atefeh ^{[1
]}

Olausson, Linus ^{[1
]}

Olofsson, Simon ^{[1
]}

Qureshi, Atif ^{[1
]}

Skarpas, Bjorn ^{[1
]}

Savneby, Anna ^{[1
]}

Astrom, Eva ^{[1
]}

Ohman, Ove ^{[1
]}

Westgren, Magnus ^{[2
]}

Kopp-Kallner, Helena ^{[3
]}

Fianu-Jonasson, Aino ^{[2
]}

Syngelaki, Argyro ^{[4
]}

Nicolaides, Kypros ^{[4
]}

机构：

[1] Vanadis Diagnost, Stockholms Lan, Sweden

[2] Karolinska Inst, Solna, Sweden

[3] Danderyds Hosp Sweden, Danderyd, Sweden

[4] Harris Birthright Res Ctr Fetal Med, London, England

来源：

SCIENTIFIC REPORTS | 2018年 / 8卷

关键词：

FETAL ANEUPLOIDY;

D O I：

10.1038/s41598-018-22606-0

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Cell-free DNA analysis is becoming adopted for first line aneuploidy screening, however for most healthcare programs, cost and workflow complexity is limiting adoption of the test. We report a novel cost effective method, the Vanadis NIPT assay, designed for high precision digitally-enabled measurement of chromosomal aneuploidies in maternal plasma. Reducing NIPT assay complexity is achieved by using novel molecular probe technology that specifically label target chromosomes combined with a new readout format using a nanofilter to enrich single molecules for imaging and counting without DNA amplification, microarrays or sequencing. The primary objective of this study was to assess the Vanadis NIPT assay with respect to analytical precision and clinical feasibility. Analysis of reference DNA samples indicate that samples which are challenging to analyze with low fetal-fraction can be readily detected with a limit of detection determined at <2% fetal-fraction. In total of 286 clinical samples were analysed and 30 out of 30 pregnancies affected by trisomy 21 were classified correctly. This method has the potential to make cost effective NIPT more widely available with more women benefiting from superior detection and false positive rates.

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页数：8

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