Enhanced Recovery after Fetal Sequencing: A Perinatal Genomic Scoping Review of Exome/Genome Testing for...

This review of genomic perinatal opportunities and uses will provide counseling and personal genetic knowledge for improved patient care.

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

The phenotype-genotype (fetal-genomic result) consideration and use of the prenatal exome sequencing 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 counseling 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).