The role of genomics in investigating ultrasound identified fetal
structural anomalies
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.