Implementation of a national rapid prenatal exome sequencing service in England: evaluation of service outcomes and factors associated with regional variation

This study showed that of those referred, pES testing provided a diagnosis for one in three pregnancies with a fetal anomaly across England during the study period when other tests had been non-informative. Women who opted for a termination of pregnancy underwent the procedure at relatively late gestations. Earlier referral for pES, streamlining pathways, and faster turnaround times may help results to be available at an earlier gestation to allow families more time to make decisions around continuing or terminating their pregnancy. The variation in service outcomes between regional services needs to be investigated further to understand the reasons for these differences.

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Publication Details

Journal
Frontiers in Genetics
Published
2024-11-06
DOI
https://doi.org/10.3389/fgene.2024.1485306
Citations
5
Primary Topic
Prenatal Screening and Diagnostics
Type
article
Field-Weighted Citation Impact
5.55

Funders

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article

Implementation of a national rapid prenatal exome sequencing service in England: evaluation of service outcomes and factors associated with regional variation

Corinne Mallinson, Steven A. Hardy, Gabriella Melis, Mark Blyth et al.
5 citations
Frontiers in Genetics
Prenatal Screening and Diagnostics
5.55
article

Implementation of a national rapid prenatal exome sequencing service in England: evaluation of service outcomes and factors associated with regional variation

Corinne Mallinson, Steven A. Hardy, Gabriella Melis, Mark Blyth, Catherine Franklin, Stephanie K. Allen, Rema Ramakrishnan, Lyn S. Chitty, Melissa K. Hill, Jennifer M. Broughan, Wing Han Wu, Marian Knight, Rhiannon Mellis
article en
5 citations

Abstract

This study showed that of those referred, pES testing provided a diagnosis for one in three pregnancies with a fetal anomaly across England during the study period when other tests had been non-informative. Women who opted for a termination of pregnancy underwent the procedure at relatively late gestations. Earlier referral for pES, streamlining pathways, and faster turnaround times may help results to be available at an earlier gestation to allow families more time to make decisions around continuing or terminating their pregnancy. The variation in service outcomes between regional services needs to be investigated further to understand the reasons for these differences.

Frontiers in GeneticsVol. 15
National Health Service (GB), Great Ormond Street Hospital (GB), Great Ormond Street Hospital for Children NHS Foundation Trust (GB), University of Oxford (GB), National Cancer Registration Service (GB), Birmingham Women’s and Children’s NHS Foundation Trust (GB), University College London (GB)
National Institute for Health and Care Research
Good health and well-being
Openalex Percentile: Top 4%
Prenatal Screening and Diagnostics
5.55
DOIOpen Access PDFOpenAlex
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