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

Olle EricssonTarja AholaFredrik DahlFilip KarlssonFredrik PerssonOlof KarlbergFredrik RoosIda AlftrénBjörn AnderssonEmelie BarkenäsAni BoghosBirgit BrandnerJenny DahlbergPer-Ola ForsgrenNiels FrancoisAnna GoussevaFaizan HakamaliÅsa Janfalk-CarlssonHenrik JohanssonJohanna LundgrenAtefeh MohsenchianLinus OlaussonSimon OlofssonAtif QureshiBjörn SkarpåsPeter SvahnAnna SävnebyEva ÅströmAnna SahlbergAino Fianu-JonassonJérémie GautierJean-Marc CostaBo JacobssonKypros Nicolaides

Published in: Prenatal diagnosis (2019)

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.

Keyphrases

high throughput
deep learning
machine learning
single cell
high resolution
pregnancy outcomes
preterm birth
structural basis