PURPOSE: Noninvasive prenatal screening (NIPS) using cell-free DNA has transformed prenatal care. Belgium was the first country to implement and fully reimburse NIPS as a first-tier screening test offered to all pregnant women. A consortium consisting of all Belgian genetic centers report the outcome of two years genome-wide NIPS implementation. METHODS: The performance for the common trisomies and for secondary findings was evaluated based on 153,575 genome-wide NIP tests. Furthermore, the evolution of the number of invasive tests and the incidence of Down syndrome live births was registered. RESULTS: Trisomies 21, 18, and 13 were detected in respectively 0.32%, 0.07%, and 0.06% of cases, with overall positive predictive values (PPVs) of 92.4%, 84.6%, and 43.9%. Rare autosomal trisomies and fetal segmental imbalances were detected in respectively 0.23% and 0.07% of cases with PPVs of 4.1% and 47%. The number of invasive obstetric procedures decreased by 52%. The number of trisomy 21 live births dropped to 0.04%. CONCLUSION: Expanding the scope of NIPS beyond trisomy 21 fetal screening allows the implementation of personalized genomic medicine for the obstetric population. This genome-wide NIPS approach has been embedded successfully in prenatal genetic care in Belgium and might serve as a framework for other countries offering NIPS.
PURPOSE: Noninvasive prenatal screening (NIPS) using cell-free DNA has transformed prenatal care. Belgium was the first country to implement and fully reimburse NIPS as a first-tier screening test offered to all pregnant women. A consortium consisting of all Belgian genetic centers report the outcome of two years genome-wide NIPS implementation. METHODS: The performance for the common trisomies and for secondary findings was evaluated based on 153,575 genome-wide NIP tests. Furthermore, the evolution of the number of invasive tests and the incidence of Down syndrome live births was registered. RESULTS: Trisomies 21, 18, and 13 were detected in respectively 0.32%, 0.07%, and 0.06% of cases, with overall positive predictive values (PPVs) of 92.4%, 84.6%, and 43.9%. Rare autosomal trisomies and fetal segmental imbalances were detected in respectively 0.23% and 0.07% of cases with PPVs of 4.1% and 47%. The number of invasive obstetric procedures decreased by 52%. The number of trisomy 21 live births dropped to 0.04%. CONCLUSION: Expanding the scope of NIPS beyond trisomy 21 fetal screening allows the implementation of personalized genomic medicine for the obstetric population. This genome-wide NIPS approach has been embedded successfully in prenatal genetic care in Belgium and might serve as a framework for other countries offering NIPS.
Authors: Lisanne van Prooyen Schuurman; Erik A Sistermans; Diane Van Opstal; Lidewij Henneman; Mireille N Bekker; Caroline J Bax; Mijntje J Pieters; Katelijne Bouman; Sonja de Munnik; Nicolette S den Hollander; Karin E M Diderich; Brigitte H W Faas; Ilse Feenstra; Attie T J I Go; Mariëtte J V Hoffer; Marieke Joosten; Fenne L Komdeur; Klaske D Lichtenbelt; Maria P Lombardi; Marike G Polak; Fernanda S Jehee; Heleen Schuring-Blom; Servi J C Stevens; Malgorzata I Srebniak; Ron F Suijkerbuijk; Gita M Tan-Sindhunata; Karuna R M van der Meij; Merel C van Maarle; Vivian Vernimmen; Shama L van Zelderen-Bhola; Nicolien T van Ravesteyn; Maarten F C M Knapen; Merryn V E Macville; Robert-Jan H Galjaard Journal: Am J Hum Genet Date: 2022-06-02 Impact factor: 11.043
Authors: Liesbeth Lenaerts; Nathalie Brison; Charlotte Maggen; Leen Vancoillie; Huiwen Che; Peter Vandenberghe; Daan Dierickx; Lucienne Michaux; Barbara Dewaele; Patrick Neven; Giuseppe Floris; Thomas Tousseyn; Lore Lannoo; Tatjana Jatsenko; Isabelle Vanden Bempt; Kristel Van Calsteren; Vincent Vandecaveye; Luc Dehaspe; Koenraad Devriendt; Eric Legius; Kris Van Den Bogaert; Joris Robert Vermeesch; Frédéric Amant Journal: EClinicalMedicine Date: 2021-05-13
Authors: Antonio Capalbo; Maurizio Poli; Laura Rienzi; Laura Girardi; Cristina Patassini; Marco Fabiani; Danilo Cimadomo; Francesca Benini; Alessio Farcomeni; Juliana Cuzzi; Carmen Rubio; Elena Albani; Laura Sacchi; Alberto Vaiarelli; Matteo Figliuzzi; Necati Findikli; Onder Coban; Fazilet K Boynukalin; Ivan Vogel; Eva Hoffmann; Claudia Livi; Paolo E Levi-Setti; Filippo M Ubaldi; Carlos Simón Journal: Am J Hum Genet Date: 2021-11-18 Impact factor: 11.025
Authors: Kaspar Ratnik; Kristiina Rull; Oliver Aasmets; Triin Kikas; Ele Hanson; Kalle Kisand; Krista Fischer; Maris Laan Journal: Front Cardiovasc Med Date: 2022-07-27
Authors: Maurike de Groot-van der Mooren; Gert de Graaf; Michel E Weijerman; Mariette J V Hoffer; Jeroen Knijnenburg; Anne-Marie M F van der Kevie-Kersemaekers; Angelique J A Kooper; Els Voorhoeve; Birgit Sikkema-Raddatz; Laura J C M van Zutven; Malgorzata Ilona Srebniak; Karin Huijsdens-van Amsterdam; John J M Engelen; Dominique Smeets; Anton H van Kaam; Martina C Cornel Journal: Prenat Diagn Date: 2021-07-01 Impact factor: 3.050