{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T23:08:02Z","timestamp":1790636882892,"version":"4.1.0"},"reference-count":39,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,3,23]],"date-time":"2023-03-23T00:00:00Z","timestamp":1679529600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>\n                    <jats:bold>Introduction:<\/jats:bold>\n                    Prenatal ultrasound (US) anomalies are detected in around 5%\u201310% of pregnancies. In prenatal diagnosis, exome sequencing (ES) diagnostic yield ranges from 6% to 80% depending on the inclusion criteria. We describe the first French national multicenter pilot study aiming to implement ES in prenatal diagnosis following the detection of anomalies on US.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Patients and methods:<\/jats:bold>\n                    We prospectively performed prenatal trio-ES in 150 fetuses with at least two US anomalies or one US anomaly known to be frequently linked to a genetic disorder. Trio-ES was only performed if the results could influence pregnancy management. Chromosomal microarray (CMA) was performed before or in parallel.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Results:<\/jats:bold>\n                    A causal diagnosis was identified in 52\/150 fetuses (34%) with a median time to diagnosis of 28 days, which rose to 56\/150 fetuses (37%) after additional investigation. Sporadic occurrences were identified in 34\/56 (60%) fetuses and unfavorable vital and\/or neurodevelopmental prognosis was made in 13\/56 (24%) fetuses. The overall diagnostic yield was 41% (37\/89) with first-line trio-ES\n                    <jats:italic>versus<\/jats:italic>\n                    31% (19\/61) after normal CMA. Trio-ES and CMA were systematically concordant for identification of pathogenic CNV.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Conclusion:<\/jats:bold>\n                    Trio-ES provided a substantial prenatal diagnostic yield, similar to postnatal diagnosis with a median turnaround of approximately 1 month, supporting its routine implementation during the detection of prenatal US anomalies.\n                  <\/jats:p>","DOI":"10.3389\/fgene.2023.1099995","type":"journal-article","created":{"date-parts":[[2023,3,23]],"date-time":"2023-03-23T00:47:27Z","timestamp":1679532447000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":26,"title":["Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool"],"prefix":"10.3389","volume":"14","author":[{"given":"Fr\u00e9d\u00e9ric","family":"Tran 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