A flow from screening to diagnostics
Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review
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A flow from screening to diagnostics. / Vogel, Ida; Lou, Stina; Petersen, Olav Bjørn.
Prenatal Genetic Counseling: Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty. Academic Press, 2022. p. 3-20.Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review
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TY - CHAP
T1 - A flow from screening to diagnostics
AU - Vogel, Ida
AU - Lou, Stina
AU - Petersen, Olav Bjørn
N1 - Publisher Copyright: © 2022 Erasmus University Medical Center, Published by Elsevier Inc. All rights reserved.
PY - 2022
Y1 - 2022
N2 - Denmark was one of the first countries in the world to introduce a universal and free-of-charge offer of combined first-trimester screening for chromosomal anomalies to all pregnant women. In the present chapter, we describe the development and current status of the program and reflect on future directions in the era of exome sequencing and cell-based noninvasive testing. Now, prenatal screening programs differ vastly all over the world and even between countries that are often considered comparable, such as Denmark and Norway. In this chapter, we will present a few such comparisons but will focus mainly on a thorough description of the Danish context. The aim is to give the reader a point of reference to consider and compare their specific, national context.
AB - Denmark was one of the first countries in the world to introduce a universal and free-of-charge offer of combined first-trimester screening for chromosomal anomalies to all pregnant women. In the present chapter, we describe the development and current status of the program and reflect on future directions in the era of exome sequencing and cell-based noninvasive testing. Now, prenatal screening programs differ vastly all over the world and even between countries that are often considered comparable, such as Denmark and Norway. In this chapter, we will present a few such comparisons but will focus mainly on a thorough description of the Danish context. The aim is to give the reader a point of reference to consider and compare their specific, national context.
KW - cFTS
KW - combined screening
KW - Danish context
KW - Exome sequencing
KW - NIPT
KW - pregnant women
U2 - 10.1016/B978-0-12-823329-0.00007-6
DO - 10.1016/B978-0-12-823329-0.00007-6
M3 - Book chapter
AN - SCOPUS:85139298562
SN - 9780128233313
SP - 3
EP - 20
BT - Prenatal Genetic Counseling
PB - Academic Press
ER -
ID: 327139664