A flow from screening to diagnostics

Research output: Chapter in Book/Report/Conference proceedingBook chapterResearchpeer-review

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.

Original languageEnglish
Title of host publicationPrenatal Genetic Counseling : Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty
Number of pages18
PublisherAcademic Press
Publication date2022
Pages3-20
Chapter1
ISBN (Print)9780128233313
ISBN (Electronic)9780128233290
DOIs
Publication statusPublished - 2022

Bibliographical note

Publisher Copyright:
© 2022 Erasmus University Medical Center, Published by Elsevier Inc. All rights reserved.

    Research areas

  • cFTS, combined screening, Danish context, Exome sequencing, NIPT, pregnant women

ID: 327139664