Multicentric longitudinal performance monitoring of different non-invasive prenatal screening technologies used in Belgium

T13 - Multicentric longitudinal performance monitoring of different noninvasive
prenatal screening technologies used in Belgium
Armelle Duquenne1, Axel Marichal2, Machteld Baetens3, Bettina Blaumeiser4, Nathalie Brison5, Marie
Bruneau6, Saskia Bulk7, Bert Callewaert8, Sandra Coppens9, Anne De Leener1, Marjan De
Rademaeker4, Julie Désir2, Koenraad Devriendt10, Annelies Fieuw11, Jean Stéphane Gatot7, Katrien
Janssens4, Sandra Janssens8, Colombine Meunier2, Ilse Parijs12, Bruno Pichon6, Sonia Rombout2,
Ileen Slegers11, Yves Sznajer1, Olivier Vanakker3, Kim Van Berkel11, Leen Van Coillie10, Isabelle
Vandernoot6, Ann Van Den Bogaert13, Kris Van Den Bogaert5 & Joris Vermeesch5
1 Center for Human Genetics, Cliniques universitaires Saint-Luc, UCLouvain, Brussels, Belgium
2 Center for Medical Genetics, Institut de Pathologie et de Génétique, Gosselies, Charleroi, Belgium
3 Center for Medical Genetics, University Hospital Ghent, Ghent, Belgium
4 Center for Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium
5 Center for Human Genetics, University Hospitals Leuven–KU Leuven, Leuven, Belgium
6 Center for Human Genetics, Université Libre de Bruxelles, Brussels, Belgium
7 Center for Medical Genetics, Centre Hospitalier Universitaire de Liège, Liège, Belgium
8 Center for Medical Genetics, University Hospital Ghent, Ghent, Belgium
9 Center for Human Genetics, Université Libre de Bruxelles, Brussels, Belgium
10 Center for Human Genetics, University Hospitals Leuven–KU Leuven, Leuven, Belgium
11 Center for Medical Genetics, Vrije Universiteit Brussel, Brussels, Belgium
12 Center for Human Genetics, University Hospitals Leuven–KU Leuven, Leuven, Belgium
13 Center for Medical Genetics, Vrije Universiteit Brussel, Brussels, Belgium
Background/Objectives :
Belgium was the first country to fully reimburse the noninvasive prenatal screening (NIPS) as a
nationwide first-tier screening test to all pregnant women. Different commercial and in-house
developed NIPS technologies are being used. Although the accuracies (sensitivity, specificity, positive
predictive value, negative predictive value) of the commercial tests are provided by the companies,
multicentric longitudinal studies to monitor and compare performance of those methods are lacking.
Since all invasive prenatal genetic testing following positive NIPS are analyzed at the Belgian genetic
centers, we are uniquely positioned to determine the performance of different NIPS technologies.
Method/Results:
From all invasive genetic tests performed from 01/01/2020 to 01/05/2021, 303 were done following a
positive NIPS in a clinical laboratory with respectively 134, 37 and 24 indicative of trisomy 21, 18 and
13. For trisomy 21, the actual PPVs for VeriSeq®(Illumina), Harmony®(Roche) and Vanadis®(Perkin-
Elmer) were respectively 69%, 91% and 65%, significantly lower than the 95%, 98% and 94%
advertised. The PPV from the 8 genetic centers using a Laboratory Developed Test (LDT) was 92%
(Van Den Bogaert K et al Genet Med. 2021).
Conclusion:
This difference in PPV has a significant impact on both pregnant women and the health care system.
In Belgium there are about 120000 pregnancies per year. For example, with a population incidence
for trisomy 21 of 0.3%, a PPV of 69% versus 92% corresponds to a yearly increase of unnecessary
invasive tests from 28 to 112. Our study underscores the value of laboratory developed testing to
improve prenatal – and by extension – overall health care.