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A flow from screening to diagnostics

Ida Vogel, Stina Lou, Olav Bjørn Petersen

    Abstract

    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
    PublisherElsevier
    Publication date1 Jan 2022
    Pages3-20
    ISBN (Print)9780128233313
    ISBN (Electronic)9780128233290
    DOIs
    Publication statusPublished - 1 Jan 2022

    Keywords

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

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