Whole-exome sequencing: A changing landscape of prenatal counseling

Karin E.M. Diderich; Jasmijn E. Klapwijk; Marieke Joosten; Hennie T. Brüggenwirth; Malgorzata I. Srebniak

doi:10.1016/B978-0-12-823329-0.00001-5

Whole-exome sequencing: A changing landscape of prenatal counseling

Clinical Genetics

Research output: Chapter/Conference proceeding › Chapter › Academic

1 Citation (Scopus)

Abstract

In this chapter, we describe how the field of prenatal counseling is changing under the influence of whole exome sequencing (WES). WES broadens the scope of prenatal diagnoses, entailing a shift from phenotype first to genotype first. For both HCP’s and parents, this implies a change in counseling, other demands for informed decision making and a challenge for dealing with results of uncertain meaning.

Original language	English
Title of host publication	Prenatal Genetic Counseling
Subtitle of host publication	Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty
Publisher	Elsevier
Chapter	3
Pages	39-67
Number of pages	29
ISBN (Electronic)	9780128233290
ISBN (Print)	9780128233313
DOIs	https://doi.org/10.1016/B978-0-12-823329-0.00001-5
Publication status	Published - 2022

Bibliographical note

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

Access to Document

10.1016/B978-0-12-823329-0.00001-5

Cite this

@inbook{6ef9a53ada8346278906e95f8eefce8d,

title = "Whole-exome sequencing: A changing landscape of prenatal counseling",

abstract = "In this chapter, we describe how the field of prenatal counseling is changing under the influence of whole exome sequencing (WES). WES broadens the scope of prenatal diagnoses, entailing a shift from phenotype first to genotype first. For both HCP{\textquoteright}s and parents, this implies a change in counseling, other demands for informed decision making and a challenge for dealing with results of uncertain meaning.",

author = "Diderich, \{Karin E.M.\} and Klapwijk, \{Jasmijn E.\} and Marieke Joosten and Br{\"u}ggenwirth, \{Hennie T.\} and Srebniak, \{Malgorzata I.\}",

year = "2022",

doi = "10.1016/B978-0-12-823329-0.00001-5",

language = "English",

isbn = "9780128233313",

pages = "39--67",

booktitle = "Prenatal Genetic Counseling",

publisher = "Elsevier",

address = "Netherlands",

}

TY - CHAP

T1 - Whole-exome sequencing

T2 - A changing landscape of prenatal counseling

AU - Diderich, Karin E.M.

AU - Klapwijk, Jasmijn E.

AU - Joosten, Marieke

AU - Brüggenwirth, Hennie T.

AU - Srebniak, Malgorzata I.

PY - 2022

Y1 - 2022

N2 - In this chapter, we describe how the field of prenatal counseling is changing under the influence of whole exome sequencing (WES). WES broadens the scope of prenatal diagnoses, entailing a shift from phenotype first to genotype first. For both HCP’s and parents, this implies a change in counseling, other demands for informed decision making and a challenge for dealing with results of uncertain meaning.

AB - In this chapter, we describe how the field of prenatal counseling is changing under the influence of whole exome sequencing (WES). WES broadens the scope of prenatal diagnoses, entailing a shift from phenotype first to genotype first. For both HCP’s and parents, this implies a change in counseling, other demands for informed decision making and a challenge for dealing with results of uncertain meaning.

UR - https://www.scopus.com/pages/publications/85139284141

U2 - 10.1016/B978-0-12-823329-0.00001-5

DO - 10.1016/B978-0-12-823329-0.00001-5

M3 - Chapter

AN - SCOPUS:85139284141

SN - 9780128233313

SP - 39

EP - 67

BT - Prenatal Genetic Counseling

PB - Elsevier

ER -

Whole-exome sequencing: A changing landscape of prenatal counseling

Abstract

Bibliographical note

Access to Document

Other files and links

Fingerprint

Cite this