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

Journal article
Authors Olle Ericsson
Tarja Ahola
Fredrik Dahl
Filip Karlsson
Fredrik Persson
Olof Karlberg
Fredrik Roos
Ida Alftrén
Björn Andersson
Emelie Barkenäs
Ani Boghos
Birgit Brandner
Jenny Dahlberg
Per-Ola Forsgren
Niels Francois
Anna Gousseva
Faizan Hakamali
Åsa Janfalk-Carlsson
Henrik Johansson
Johanna Lundgren
Atefeh Mohsenchian
Linus Olausson
Simon Olofsson
Atif Qureshi
Björn Skarpås
Peter Svahn
Anna Sävneby
Eva Åström
Anna Sahlberg
Aino Fianu-Jonasson
Jérémie Gautier
Jean-Marc Costa
Bo Jacobsson
Kypros Nicolaides
Published in Prenatal diagnosis
Volume 39
Issue 11
Pages 1011-1015
ISSN 1097-0223
Publication year 2019
Published at Institute of Clinical Sciences, Department of Obstetrics and Gynecology
Pages 1011-1015
Language en
Subject categories Obstetrics and gynaecology


To evaluate clinical performance of a new automated cell-free (cf)DNA assay in maternal plasma screening for trisomies 21, 18, and 13, and to determine fetal sex.Maternal plasma samples from 1200 singleton pregnancies were analyzed with a new non-sequencing cfDNA method, which is based on imaging and counting specific chromosome targets. Reference outcomes were determined by either cytogenetic testing, of amniotic fluid or chorionic villi, or clinical examination of neonates.The samples examined included 158 fetal aneuploidies. Sensitivity was 100% (112/112) for trisomy 21, 89% (32/36) for trisomy 18, and 100% (10/10) for trisomy 13. The respective specificities were 100%, 99.5%, and 99.9%. There were five first pass failures (0.4%), all in unaffected pregnancies. Sex classification was performed on 979 of the samples and 99.6% (975/979) provided a concordant result.The new automated cfDNA assay has high sensitivity and specificity for trisomies 21, 18, and 13 and accurate classification of fetal sex, while maintaining a low failure rate. The study demonstrated that cfDNA testing can be simplified and automated to reduce cost and thereby enabling wider population-based screening.

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