The role of next‐generation sequencing in the investigation of ultrasound‐identified fetal structural anomalies
Research output: Contribution to journal › Article › peer-review
Authors
Colleges, School and Institutes
Abstract
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.
Details
Original language | English |
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Pages (from-to) | 420-429 |
Number of pages | 10 |
Journal | BJOG: An International Journal of Obstetrics & Gynaecology |
Volume | 128 |
Issue number | 2 |
Early online date | 25 Sep 2020 |
Publication status | Published - Jan 2021 |
Keywords
- Exome, fetus, genome, sequencing, structural abnormality