The role of next‐generation sequencing in the investigation of ultrasound‐identified fetal structural anomalies

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Fetal structural anomalies have an impact on fetal mortality and morbidity. Next-generation sequencing (NGS) may be incorporated into clinical pathways for investigation of paediatric morbidity but can also be used to delineate the prognosis of fetal anomalies. This paper reviews the role of NGS in the investigation of fetal malformations, the literature defining the clinical utility, the technique most commonly used and potential promise and challenges for implementation into clinical practice. Prospective case selection with informative pre-test counselling by multidisciplinary teams is imperative. Regulated laboratory sequencing, bioinformatic pathways with potential variant identification and conservative matching with the phenotype is important. Tweetable abstract: Prenatal exome sequencing in fetal structural anomalies yields diagnostic information in up to 20% of cases.

Original languageEnglish
Pages (from-to)420-429
Number of pages10
JournalBJOG: An International Journal of Obstetrics & Gynaecology
Issue number2
Early online date25 Sept 2020
Publication statusPublished - Jan 2021

Bibliographical note

Funding Information:
MDK was an investigator and grant holder as part of the PAGE study. This represents research commissioned by the Health Innovation Challenge Fund (HICF‐R7‐396), a parallel funding partnership between the Department of Health and the Wellcome Trust. The views expressed in this publication are those of the author and not necessarily those of the Department of Health or the Wellcome Trust. MDK is also a member of the RCOG Genomics Taskforce, the RCOG representative of the Joint Committee on Genomics in Medicine (joint committee of the Royal College of Physicians, Royal College of Pathologists, Royal College of Paediatricians & Child Health, Royal of Obstetricians and Gynaecologists) and a member of the Fetal Group of the British Society of Genetic Medicine. A completed disclosure of interest form is available to view online as supporting information .

Funding Information:
I am grateful for the comments of Dr Denise Williams (Consultant Clinical Geneticist) and Dr Stephanie Allen (Senior Scientist and Prenatal lead for the West Midlands Genetics Research Laboratory) at Birmingham Women's and Children's Foundation Trust.

Publisher Copyright:
© 2020 The Authors. BJOG: An International Journal of Obstetrics and Gynaecology published by John Wiley & Sons Ltd


  • Exome
  • fetus
  • genome
  • sequencing
  • structural abnormality

ASJC Scopus subject areas

  • Obstetrics and Gynaecology


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