Our publications
NEW ARTICLE: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service
January 2024
The EXPRESS team are very pleased to have contributed to an research article detailing the experiences of parents offered rapid prenatal exome sequencing in the UK.
In the article we describe the experiences of parents and the support needs from the perspective of parents offered prenatal exome sequencing and of health professionals involved in its delivery.
NEW ARTICLE: Public and patient involvement in research to evaluate delivery of genome sequencing services in the UK
February 2023
The EXPRESS team are very pleased to have contributed to an opinion piece on the importance of PPI in supporting research in UK genomic services.
In the article we describe how our PPI research team members and PPI Advisory Group have played a key role in the EXPRESS study.
Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?
April 2022
Prenatal exome sequencing (pES) for the diagnosis of fetal abnormalities is being introduced more widely in clinical practice.
In this new paper, some of the EXPRESS team members explored parents' and professionals' views and experiences of pES to identify perceived benefits, concerns, and support needs.
Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis.
February 2022
Prenatal exome sequencing (pES) increases genetic diagnoses in fetuses with structural abnormalities and a normal karyotype and chromosomal microarray. However, published diagnostic yields from pES vary from study to study and may be influenced by study size, case selection and fetal phenotype.
Some of the EXPRESS team members conducted a
systematic review of the literature and investigated the diagnostic yield of pES for a range of isolated system anomalies, to support clinical decision-making on how to offer prenatal pES.
ARTICLE: What do parents find when they search the Internet for information about prenatal exome sequencing?
November 2021
The majority of women will search for information online at some point during their pregnancy. For some, this will be because they want to find out more about prenatal genetic tests.
But is this information accurate, written in a way that is understandable to parents, and of a good enough standard to help families make decisions about their pregnancy?
The EXPRESS team conducted a systematic review of the information available to parents when they search for information about two genetic tests: prenatal exome sequencing and prenatal microarray.