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

Research output: Contribution to journalArticlepeer-review


Colleges, School and Institutes


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.


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


  • Exome, fetus, genome, sequencing, structural abnormality