{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,18]],"date-time":"2026-07-18T05:01:24Z","timestamp":1784350884850,"version":"3.55.0"},"reference-count":92,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T00:00:00Z","timestamp":1750723200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T00:00:00Z","timestamp":1750723200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Fetal Diagn Ther"],"abstract":"<jats:p>Background: This review of genomic perinatal opportunities and uses will provide counseling and personal genetic knowledge for improved patient care. Summary: 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 &gt;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. Key Messages: 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).<\/jats:p>","DOI":"10.1159\/000546993","type":"journal-article","created":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T12:02:35Z","timestamp":1750766555000},"page":"581-596","source":"Crossref","is-referenced-by-count":2,"title":["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"],"prefix":"10.1159","volume":"52","author":[{"given":"Robert 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