Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Kris Van Den Bogaert; Lore Lannoo; Nathalie Brison; Vincent Gatinois; Machteld Baetens; Bettina Blaumeiser; François Boemer; Laura Bourlard; Vincent Bours; Anne De Leener; Julie Désir; Annelies Dheedene; Armelle Duquenne; Nathalie Fieremans; Annelies Fieuw; Jean-Stéphane Gatot; Bernard Grisart; Sandra Janssens; Damien Lederer; Axel Marichal; Björn Menten; Colombine Meunier; Leonor Palmeira; Bruno Pichon; Eva Sammels; Guillaume Smits; Yves Sznajer; Elise Vantroys; Koenraad Devriendt; Joris Robert Vermeesch

doi:10.1038/s41436-021-01101-4

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Kris Van Den Bogaert, Lore Lannoo, Nathalie Brison, Vincent Gatinois, Machteld Baetens, Bettina Blaumeiser, François Boemer, Laura Bourlard, Vincent Bours, Anne De Leener, Julie Désir, Annelies Dheedene, Armelle Duquenne, Nathalie Fieremans, Annelies Fieuw, Jean-Stéphane Gatot, Bernard Grisart, Sandra Janssens, Damien Lederer, Axel MarichalBjörn Menten, Colombine Meunier, Leonor Palmeira, Bruno Pichon, Eva Sammels, Guillaume Smits, Yves Sznajer, Elise Vantroys, Koenraad Devriendt, Joris Robert Vermeesch

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87 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	1137-1142
Number of pages	6
Journal	Genetics in Medicine : Official Journal of the American College of Medical Genetics
Volume	23
Issue number	6
Early online date	9 Feb 2021
DOIs	https://doi.org/10.1038/s41436-021-01101-4
Publication status	Published - Jun 2021

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Van Den Bogaert, K., Lannoo, L., Brison, N., Gatinois, V., Baetens, M., Blaumeiser, B., Boemer, F., Bourlard, L., Bours, V., De Leener, A., Désir, J., Dheedene, A., Duquenne, A., Fieremans, N., Fieuw, A., Gatot, J-S., Grisart, B., Janssens, S., Lederer, D., ... Vermeesch, J. R. (2021). Outcome of publicly funded nationwide first-tier noninvasive prenatal screening. Genetics in Medicine : Official Journal of the American College of Medical Genetics, 23(6), 1137-1142. https://doi.org/10.1038/s41436-021-01101-4

Van Den Bogaert, Kris ; Lannoo, Lore ; Brison, Nathalie ; Gatinois, Vincent ; Baetens, Machteld ; Blaumeiser, Bettina ; Boemer, François ; Bourlard, Laura ; Bours, Vincent ; De Leener, Anne ; Désir, Julie ; Dheedene, Annelies ; Duquenne, Armelle ; Fieremans, Nathalie ; Fieuw, Annelies ; Gatot, Jean-Stéphane ; Grisart, Bernard ; Janssens, Sandra ; Lederer, Damien ; Marichal, Axel ; Menten, Björn ; Meunier, Colombine ; Palmeira, Leonor ; Pichon, Bruno ; Sammels, Eva ; Smits, Guillaume ; Sznajer, Yves ; Vantroys, Elise ; Devriendt, Koenraad ; Vermeesch, Joris Robert. / Outcome of publicly funded nationwide first-tier noninvasive prenatal screening. In: Genetics in Medicine : Official Journal of the American College of Medical Genetics. 2021 ; Vol. 23, No. 6. pp. 1137-1142.

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title = "Outcome of publicly funded nationwide first-tier noninvasive prenatal screening",

abstract = "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.",

author = "{Van Den Bogaert}, Kris and Lore Lannoo and Nathalie Brison and Vincent Gatinois and Machteld Baetens and Bettina Blaumeiser and Fran{\c c}ois Boemer and Laura Bourlard and Vincent Bours and {De Leener}, Anne and Julie D{\'e}sir and Annelies Dheedene and Armelle Duquenne and Nathalie Fieremans and Annelies Fieuw and Jean-St{\'e}phane Gatot and Bernard Grisart and Sandra Janssens and Damien Lederer and Axel Marichal and Bj{\"o}rn Menten and Colombine Meunier and Leonor Palmeira and Bruno Pichon and Eva Sammels and Guillaume Smits and Yves Sznajer and Elise Vantroys and Koenraad Devriendt and Vermeesch, {Joris Robert}",

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doi = "10.1038/s41436-021-01101-4",

language = "English",

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pages = "1137--1142",

journal = "Genetics in Medicine",

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Van Den Bogaert, K, Lannoo, L, Brison, N, Gatinois, V, Baetens, M, Blaumeiser, B, Boemer, F, Bourlard, L, Bours, V, De Leener, A, Désir, J, Dheedene, A, Duquenne, A, Fieremans, N , Fieuw, A, Gatot, J-S, Grisart, B, Janssens, S, Lederer, D, Marichal, A, Menten, B, Meunier, C, Palmeira, L, Pichon, B, Sammels, E, Smits, G, Sznajer, Y, Vantroys, E, Devriendt, K & Vermeesch, JR 2021, 'Outcome of publicly funded nationwide first-tier noninvasive prenatal screening', Genetics in Medicine : Official Journal of the American College of Medical Genetics, vol. 23, no. 6, pp. 1137-1142. https://doi.org/10.1038/s41436-021-01101-4

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening. / Van Den Bogaert, Kris; Lannoo, Lore; Brison, Nathalie; Gatinois, Vincent; Baetens, Machteld; Blaumeiser, Bettina; Boemer, François; Bourlard, Laura; Bours, Vincent; De Leener, Anne; Désir, Julie; Dheedene, Annelies; Duquenne, Armelle; Fieremans, Nathalie ; Fieuw, Annelies; Gatot, Jean-Stéphane; Grisart, Bernard; Janssens, Sandra; Lederer, Damien; Marichal, Axel; Menten, Björn; Meunier, Colombine; Palmeira, Leonor; Pichon, Bruno; Sammels, Eva; Smits, Guillaume; Sznajer, Yves; Vantroys, Elise; Devriendt, Koenraad; Vermeesch, Joris Robert.

In: Genetics in Medicine : Official Journal of the American College of Medical Genetics, Vol. 23, No. 6, 06.2021, p. 1137-1142.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

AU - Van Den Bogaert, Kris

AU - Lannoo, Lore

AU - Brison, Nathalie

AU - Gatinois, Vincent

AU - Baetens, Machteld

AU - Blaumeiser, Bettina

AU - Boemer, François

AU - Bourlard, Laura

AU - Bours, Vincent

AU - De Leener, Anne

AU - Désir, Julie

AU - Dheedene, Annelies

AU - Duquenne, Armelle

AU - Fieremans, Nathalie

AU - Fieuw, Annelies

AU - Gatot, Jean-Stéphane

AU - Grisart, Bernard

AU - Janssens, Sandra

AU - Lederer, Damien

AU - Marichal, Axel

AU - Menten, Björn

AU - Meunier, Colombine

AU - Palmeira, Leonor

AU - Pichon, Bruno

AU - Sammels, Eva

AU - Smits, Guillaume

AU - Sznajer, Yves

AU - Vantroys, Elise

AU - Devriendt, Koenraad

AU - Vermeesch, Joris Robert

PY - 2021/6

Y1 - 2021/6

N2 - 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.

AB - 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.

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U2 - 10.1038/s41436-021-01101-4

DO - 10.1038/s41436-021-01101-4

M3 - Article

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VL - 23

SP - 1137

EP - 1142

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

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ER -

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

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