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The role of genomics in investigating ultrasound identified fetal structural anomalies
  • Mark Kilby
Mark Kilby
Birmingham university
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Abstract

Ultrasound-detected structural anomalies have an impact on fetal mortality and morbidity. Prenatal Exome Sequencing is incorporated into clinical care pathways for paediatric populations but maybe used to delineate the prognosis of fetal structural anomalies. This paper reviews the literature defining the clinical utility of prenatal ES and discusses the potential promise and challenges for implementation of this technology into clinical practice. Prospective case selection with accurate and informative pre-test counselling by multidisciplinary, clinical genetic-led teams is imperative. Robust, regulated laboratory sequencing, informative bioinformatic pathways with variant identification and conservative matching with the phenotype (within clinical review panels) is also important.

Peer review status:ACCEPTED

26 Apr 2020Submitted to BJOG: An International Journal of Obstetrics and Gynaecology
27 Apr 2020Submission Checks Completed
27 Apr 2020Assigned to Editor
30 Apr 2020Reviewer(s) Assigned
22 Jun 2020Review(s) Completed, Editorial Evaluation Pending
07 Jul 2020Editorial Decision: Revise Minor
22 Jul 20201st Revision Received
22 Jul 2020Submission Checks Completed
22 Jul 2020Assigned to Editor
22 Jul 2020Review(s) Completed, Editorial Evaluation Pending
24 Jul 2020Editorial Decision: Accept