Enhanced Recovery After Fetal Sequencing: A Perinatal Genomic Scoping Review of Exome / Genome Testing for Reproductive / Obstetric-MFM Providers to initiate Knowledge Translation following a Screening Ultrasound Identifying Fetal Anomalies.

Introduction: This review of genomic perinatal opportunities and uses will provide counselling and personal genetic knowledge for improved patient care. M/M: This focused systematic analysis and review has used PUBMED keywords to identify genomic testing for ultrasound identified fetal anomaly (ies) that require diagnostic testing after an informed consent process.

Results: Multiple fetal anomalies, using TRIO sequencing processes, have a better diagnostic yield, with certain cohorts > 50%. For the single anatomic categories, skeletal, central nervous system, and renal systems, using WES fetal sequencing (most commonly) for a diagnostic result, have the larger incremental diagnostic yield over CMA.

Conclusion: The phenotype-genotype (fetal-genomic result) consideration and use of the pES technology can be summarized using a SWOT analysis: strength (enhanced evaluation of fetal-neonatal genomic abnormalities not identified by standard chromosomal microarray and improved ethical care decisions); weakness (the understanding and complexity of genomic pathology and testing / the fiscal cost for professional time and the health system services); opportunity (an increased recognition of fetal genetic risk pathology [de novo or inherited carrier mutations] with improved understanding and knowledge translation of counselling for recurrence risk); threat (inability to provide a genetic diagnosis or interpret a variant of unknown significance or the discovery of incidental findings or unanticipated parental genomic diagnoses).