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The role of next‐generation sequencing in the investigation of ultrasound‐identified fetal structural anomalies
Author(s) -
Kilby MD
Publication year - 2021
Publication title -
bjog: an international journal of obstetrics and gynaecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.157
H-Index - 164
eISSN - 1471-0528
pISSN - 1470-0328
DOI - 10.1111/1471-0528.16533
Subject(s) - exome sequencing , identification (biology) , dna sequencing , fetus , medicine , computational biology , prenatal diagnosis , selection (genetic algorithm) , bioinformatics , phenotype , biology , pregnancy , genetics , computer science , gene , machine learning , botany
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.

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