Major congenital anomalies are often associated with perinatal mortality, long-term morbidity and prolonged hospitalisation. Prenatal ultrasound remains the principle diagnostic test for many anomalies, but despite this up to one-third are only identified in the neonatal period. The primary step in determining underlying aetiology is to define accurately the phenotype by recognition of dysmorphology (both prenatally and postnatally). The potential introduction of next-generation sequencing, primarily through exome sequencing, into perinatal practice may improve the pathological diagnostic yield. However, clinicians must understand both the benefit and potential harms of this technology in facilitating the discovery of relevant pathogenic variants in the diagnosis and management of congenital malformations.
- exome sequencing
- PAGE study
- next generation sequencing
- monogenic disorders
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Contributors FM drafted the manuscript and performed the literature review. EQJ, AKE and MDK coedited and approved the final version of the manuscript for submission.
Funding EQJ and MDK are funded through the Department of Health, Wellcome Trust and Health Innovation Challenge Fund (award number HICF-R7-396) for the PAGE and PAGE2 research studies. MDK is a member of Illumina’s International Perinatal Group but receives no payment for this.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
Patient consent for publication Not required.