Noninvasive prenatal screening and diagnosis: from bench to clinic

Elke Mersy

doi:10.26481/dis.20161207em

Noninvasive prenatal screening and diagnosis: from bench to clinic

Elke Mersy

Research output: Thesis › Doctoral Thesis › Internal

1040 Downloads (Pure)

Abstract

The blood of a pregnant woman contains DNA from her unborn child. This DNA can be tested by taking a blood sample from the mother-to-be. In this dissertation, a blood sample was used to determine the sex of the baby and to test for the inheritance of myotonic dystrophy, a chronic muscular disorder. This dissertation also assessed the responsible use of this blood test to screen for Down's syndrome and less severe chromosomal disorders during pregnancy. All pregnant women will be able to request this test to screen for Down's syndrome as of April 2017.

Original language	English
Awarding Institution	Maastricht University
Supervisors/Advisors	Veltman, Joris, Supervisor Smulders - de Die, Christine E., Supervisor Frints, Suzanne, Co-Supervisor
Award date	7 Dec 2016
Place of Publication	Maastricht
Publisher	Maastricht University
Print ISBNs	9789462334397
DOIs	https://doi.org/10.26481/dis.20161207em
Publication status	Published - 2016

Keywords

NIPT
prenatal
screening
pregnancy

Access to Document

10.26481/dis.20161207em

Full textFinal published version, 3.57 MB
AbstractFinal published version, 437 KB
PropositionsFinal published version, 221 KB
CoverFinal published version, 92.6 KB
ValorisationFinal published version, 552 KB

Cite this

@phdthesis{f5c498bdb8704b5e8734004dffed4a5f,

title = "Noninvasive prenatal screening and diagnosis: from bench to clinic",

abstract = "The blood of a pregnant woman contains DNA from her unborn child. This DNA can be tested by taking a blood sample from the mother-to-be. In this dissertation, a blood sample was used to determine the sex of the baby and to test for the inheritance of myotonic dystrophy, a chronic muscular disorder. This dissertation also assessed the responsible use of this blood test to screen for Down's syndrome and less severe chromosomal disorders during pregnancy. All pregnant women will be able to request this test to screen for Down's syndrome as of April 2017.",

keywords = "NIPT, prenatal, screening, pregnancy",

author = "Elke Mersy",

year = "2016",

doi = "10.26481/dis.20161207em",

language = "English",

isbn = "9789462334397",

publisher = "Maastricht University",

school = "Maastricht University",

}

TY - BOOK

T1 - Noninvasive prenatal screening and diagnosis

T2 - from bench to clinic

AU - Mersy, Elke

PY - 2016

Y1 - 2016

N2 - The blood of a pregnant woman contains DNA from her unborn child. This DNA can be tested by taking a blood sample from the mother-to-be. In this dissertation, a blood sample was used to determine the sex of the baby and to test for the inheritance of myotonic dystrophy, a chronic muscular disorder. This dissertation also assessed the responsible use of this blood test to screen for Down's syndrome and less severe chromosomal disorders during pregnancy. All pregnant women will be able to request this test to screen for Down's syndrome as of April 2017.

AB - The blood of a pregnant woman contains DNA from her unborn child. This DNA can be tested by taking a blood sample from the mother-to-be. In this dissertation, a blood sample was used to determine the sex of the baby and to test for the inheritance of myotonic dystrophy, a chronic muscular disorder. This dissertation also assessed the responsible use of this blood test to screen for Down's syndrome and less severe chromosomal disorders during pregnancy. All pregnant women will be able to request this test to screen for Down's syndrome as of April 2017.

KW - NIPT

KW - prenatal

KW - screening

KW - pregnancy

U2 - 10.26481/dis.20161207em

DO - 10.26481/dis.20161207em

M3 - Doctoral Thesis

SN - 9789462334397

PB - Maastricht University

CY - Maastricht

ER -