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
Introduction The aim of this retrospective cohort study was to determine the potential diagnostic yi...
PurposeUnexpected fetal abnormalities occur in 2-5% of pregnancies. While traditional cytogenetic an...
The utility and effectiveness of whole exome sequencing (WES) have been demonstrated in a pediatric ...
Objective Focus groups were conducted with individuals involved in prenatal diagnosis to determine ...
Objective Focus groups were conducted with individuals involved in prenatal diagnosis to determine ...
Purpose: Exome sequencing (ES) is an efficient tool to diagnose genetic disorders postnatally. Recen...
Abstract: Prenatal diagnostic testing is a rapidly advancing field. An accurate diagnosis of structu...
Abstract Background Whole-exome sequencing (WES) has become an invaluable tool for genetic diagnosis...
Abstract Background Exome sequencing is now being incorporated into clinical care for pediatric and ...
Exome sequencing (ES) enhanced the diagnostic yield of genetic testing, but has also increased the p...
<p>Whole-exome sequencing (WES) represents a significant breakthrough in the field of human genetics...
Objective To explore parental experiences of whole exome sequencing (WES) for prenatal diagnosis an...
Whole exome sequencing is currently used for the diagnosis of genetic conditions in pediatric and ad...
Whole-exome sequencing (WES) has been instrumental in the discovery of novel genes and mechanisms ca...
Background: Prenatal whole exome sequencing (WES) approaches can provide genetic diagnosis with rapi...
Introduction The aim of this retrospective cohort study was to determine the potential diagnostic yi...
PurposeUnexpected fetal abnormalities occur in 2-5% of pregnancies. While traditional cytogenetic an...
The utility and effectiveness of whole exome sequencing (WES) have been demonstrated in a pediatric ...
Objective Focus groups were conducted with individuals involved in prenatal diagnosis to determine ...
Objective Focus groups were conducted with individuals involved in prenatal diagnosis to determine ...
Purpose: Exome sequencing (ES) is an efficient tool to diagnose genetic disorders postnatally. Recen...
Abstract: Prenatal diagnostic testing is a rapidly advancing field. An accurate diagnosis of structu...
Abstract Background Whole-exome sequencing (WES) has become an invaluable tool for genetic diagnosis...
Abstract Background Exome sequencing is now being incorporated into clinical care for pediatric and ...
Exome sequencing (ES) enhanced the diagnostic yield of genetic testing, but has also increased the p...
<p>Whole-exome sequencing (WES) represents a significant breakthrough in the field of human genetics...
Objective To explore parental experiences of whole exome sequencing (WES) for prenatal diagnosis an...
Whole exome sequencing is currently used for the diagnosis of genetic conditions in pediatric and ad...
Whole-exome sequencing (WES) has been instrumental in the discovery of novel genes and mechanisms ca...
Background: Prenatal whole exome sequencing (WES) approaches can provide genetic diagnosis with rapi...
Introduction The aim of this retrospective cohort study was to determine the potential diagnostic yi...
PurposeUnexpected fetal abnormalities occur in 2-5% of pregnancies. While traditional cytogenetic an...
The utility and effectiveness of whole exome sequencing (WES) have been demonstrated in a pediatric ...