Implementing genome-wide non-invasive prenatal testing in a national prenatal screening program

Karuna Rosa Mariyah van der Meij

Implementing genome-wide non-invasive prenatal testing in a national prenatal screening program

Karuna Rosa Mariyah van der Meij

Research output: PhD Thesis › PhD-Thesis - Research and graduation internal

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Abstract

The introduction of non-invasive prenatal testing (NIPT) as a screening test for the detection of fetal aneuploidies has transformed prenatal screening worldwide. NIPT is a safe and reliable screening method to detect fetal aneuploidies in maternal blood. In April 2017, first-tier NIPT was implemented in the Netherlands for all pregnant women as part of the TRIDENT-2 study initiated by the Dutch NIPT consortium. This thesis aimed to evaluate the responsible introduction of first-tier NIPT in the Dutch prenatal screening program. The studies in this thesis focus on aspects related to the implementation of NIPT (part I) and the perspectives of pregnant women (part II).

Original language	English
Qualification	PhD
Awarding Institution	Vrije Universiteit Amsterdam
Supervisors/Advisors	Henneman, Lidewij, Supervisor, - Cornel, Martina, Supervisor Sistermans, E.A., Co-supervisor, - Weiss, Marjan, Co-supervisor, -
Award date	23 Nov 2022
Place of Publication	Amsterdam
Publisher	s.n.
Print ISBNs	9789464585605
Publication status	Published - 23 Nov 2022

Keywords

prenatal screening
NIPT
implementation
first-tier test
women's perspectives
genome-wide

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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Implementing genome-wide non-invasive prenatal testing in a national prenatal screening programFinal published version, 34.3 MB
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title = "Implementing genome-wide non-invasive prenatal testing in a national prenatal screening program",

abstract = "The introduction of non-invasive prenatal testing (NIPT) as a screening test for the detection of fetal aneuploidies has transformed prenatal screening worldwide. NIPT is a safe and reliable screening method to detect fetal aneuploidies in maternal blood. In April 2017, first-tier NIPT was implemented in the Netherlands for all pregnant women as part of the TRIDENT-2 study initiated by the Dutch NIPT consortium. This thesis aimed to evaluate the responsible introduction of first-tier NIPT in the Dutch prenatal screening program. The studies in this thesis focus on aspects related to the implementation of NIPT (part I) and the perspectives of pregnant women (part II).",

keywords = "prenatale screening, NIPT, implementatie, eerste screeningstest, perspectieven van vrouwen, genoombreed, prenatal screening, NIPT, implementation, first-tier test, women's perspectives, genome-wide",

author = "{van der Meij}, {Karuna Rosa Mariyah}",

year = "2022",

month = nov,

day = "23",

language = "English",

isbn = "9789464585605",

publisher = "s.n.",

type = "PhD-Thesis - Research and graduation internal",

school = "Vrije Universiteit Amsterdam",

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T1 - Implementing genome-wide non-invasive prenatal testing in a national prenatal screening program

AU - van der Meij, Karuna Rosa Mariyah

PY - 2022/11/23

Y1 - 2022/11/23

N2 - The introduction of non-invasive prenatal testing (NIPT) as a screening test for the detection of fetal aneuploidies has transformed prenatal screening worldwide. NIPT is a safe and reliable screening method to detect fetal aneuploidies in maternal blood. In April 2017, first-tier NIPT was implemented in the Netherlands for all pregnant women as part of the TRIDENT-2 study initiated by the Dutch NIPT consortium. This thesis aimed to evaluate the responsible introduction of first-tier NIPT in the Dutch prenatal screening program. The studies in this thesis focus on aspects related to the implementation of NIPT (part I) and the perspectives of pregnant women (part II).

AB - The introduction of non-invasive prenatal testing (NIPT) as a screening test for the detection of fetal aneuploidies has transformed prenatal screening worldwide. NIPT is a safe and reliable screening method to detect fetal aneuploidies in maternal blood. In April 2017, first-tier NIPT was implemented in the Netherlands for all pregnant women as part of the TRIDENT-2 study initiated by the Dutch NIPT consortium. This thesis aimed to evaluate the responsible introduction of first-tier NIPT in the Dutch prenatal screening program. The studies in this thesis focus on aspects related to the implementation of NIPT (part I) and the perspectives of pregnant women (part II).

KW - prenatale screening

KW - NIPT

KW - implementatie

KW - eerste screeningstest

KW - perspectieven van vrouwen

KW - genoombreed

KW - prenatal screening

KW - NIPT

KW - implementation

KW - first-tier test

KW - women's perspectives

KW - genome-wide

M3 - PhD-Thesis - Research and graduation internal

SN - 9789464585605

PB - s.n.

CY - Amsterdam

ER -

Implementing genome-wide non-invasive prenatal testing in a national prenatal screening program

Abstract

Keywords

UN SDGs

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