{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T05:56:54Z","timestamp":1790575014955,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T00:00:00Z","timestamp":1786665600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T00:00:00Z","timestamp":1786665600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ultrasound in Obstet &amp;amp; Gyne"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To determine the retrospective yield of prenatal exome sequencing (PES) by establishing the proportion of children with a postnatal monogenic diagnosis that could have been diagnosed prenatally if PES had been available.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>The study cohort comprised a sample of children in Northern Ireland, born between January 2010 and January 2018 (predating routine availability of PES), who received a monogenic diagnosis postnatally via next generation sequencing as part of either of two UK\u2010wide studies (the 100\u2009000 Genomes Project (2015\u20132018) or the Deciphering Developmental Disorders study (2011\u20132015)). Clinical data were collected retrospectively and correlated with the current UK National Health Service PES protocol, including the phenotypic eligibility criteria for PES and the associated fetal anomalies gene panel. Cases were considered retrospective diagnoses if the fetal phenotype would have been eligible for PES and the diagnostic gene was included on the test panel, meaning prenatal diagnosis in this current era could have been feasible.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Of 101 children, 17.8% (95%\u2009CI, 10.3\u201325.3%) had both an eligible fetal structural anomaly (FSA) (i.e. high\u2010risk FSA) and a diagnostic gene on the associated test panel, meaning that they could have been diagnosed prenatally in the current clinical landscape. The median length of the diagnostic odyssey for this subgroup of children was 3.7\u2009years (1354\u2009(range, 822\u20132450)\u2009days). Moreover, 58.4% (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200959) of cases had no anomalies detected prenatally and 19.8% (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200920) had a FSA that would not meet the eligibility criteria for PES (low\u2010risk FSA). Although these cases would have been ineligible for PES under the current clinical pathway, 89.9% (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200971\/79) were affected by severe or profound syndromes. Postnatally, the most common functional anomalies were neurodevelopmental delay\/intellectual disability and\/or behavioral abnormality, which were observed in 80.2% (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200981) of the included children. However, 80.2% (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200965\/81) of these affected children did not present with fetal anomalies eligible for PES.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Almost one\u2010fifth of children with a monogenic condition included in this study could have received a diagnosis via modern PES, avoiding a diagnostic odyssey lasting almost 4\u2009years. However, despite having a monogenic condition, over half of the children did not present with any structural anomalies\n                      <jats:italic>in utero<\/jats:italic>\n                      . This demonstrates the degree to which fetal imaging is limited in its ability to reassure parents of the absence of a fetal genetic syndrome. \u00a9 2026 The Author(s).\n                      <jats:italic>Ultrasound in Obstetrics &amp; Gynecology<\/jats:italic>\n                      published by John Wiley &amp; Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/uog.70318","type":"journal-article","created":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T19:15:11Z","timestamp":1786734911000},"page":"388-394","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Obtaining a\n                    <scp>Diagnostic Yield<\/scp>\n                    via\n                    <scp>Scan<\/scp>\n                    findings prior to the introduction of\n                    <scp>SEquencing retrospectivelY<\/scp>\n                    (\n                    <scp>ODYSSEY<\/scp>\n                    ): a cohort study"],"prefix":"10.1002","volume":"68","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-9517-1079","authenticated-orcid":false,"given":"S.","family":"Sonner","sequence":"first","affiliation":[{"name":"Centre for Public Health, Queen's University Belfast  Belfast UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1763-4889","authenticated-orcid":false,"given":"C.","family":"Mckenna","sequence":"additional","affiliation":[{"name":"Northern Ireland Genomic Medicine Centre, Belfast Health and Social Care Trust  Belfast UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-1058-5910","authenticated-orcid":false,"given":"C.","family":"Flanagan","sequence":"additional","affiliation":[{"name":"Northern Ireland Genomic Medicine Centre, Belfast Health and Social Care Trust  Belfast UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1772-0106","authenticated-orcid":false,"given":"S.","family":"Mckee","sequence":"additional","affiliation":[{"name":"Northern Ireland Genomic Medicine Centre, Belfast Health and Social Care Trust  Belfast UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-0974-5006","authenticated-orcid":false,"given":"A.","family":"Ververi","sequence":"additional","affiliation":[{"name":"Department of Genetics for Rare Diseases Papageorgiou General Hospital  Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6729-8281","authenticated-orcid":false,"given":"S.","family":"Doyle","sequence":"additional","affiliation":[{"name":"Centre for Prenatal Genetics and Genomics, National Maternity Hospital  Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-1651-7715","authenticated-orcid":false,"given":"S.","family":"Ong","sequence":"additional","affiliation":[{"name":"Centre for Fetal Medicine, Royal Jubilee Maternity Service, Belfast Health and Social Care Trust  Belfast UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7482-709X","authenticated-orcid":false,"given":"A. J.","family":"Mcknight","sequence":"additional","affiliation":[{"name":"Centre for Public Health, Queen's University Belfast  Belfast UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0718-7547","authenticated-orcid":false,"given":"F.","family":"Mone","sequence":"additional","affiliation":[{"name":"Centre for Public Health, Queen's University Belfast  Belfast UK"},{"name":"Centre for Fetal Medicine, Royal Jubilee Maternity Service, Belfast Health and Social Care Trust  Belfast UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,14]]},"reference":[{"issue":"4","key":"e_1_2_7_2_1","first-page":"3","article-title":"Rare diseases: a challenge for medicine and public health","volume":"8","author":"Fehr A","year":"2023","journal-title":"J Health Monit"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamapediatrics.2020.1522"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2018.10.016"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6115"},{"key":"e_1_2_7_6_1","volume-title":"Rapid exome sequencing service guidance: Fetal anomalies testing","author":"National Health Service England","year":"2021"},{"key":"e_1_2_7_7_1","volume-title":"Glossary\u00a0\u2013\u00a0100,000 Genomes Project","author":"Genomics Education Programme","year":"2020"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2209046"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2035790"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2011.04032.x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40246-022-00407-x"},{"key":"e_1_2_7_12_1","volume-title":"ACGS best practice guidelines for variant classification in rare disease 2024","author":"Durkie M","year":"2024"},{"key":"e_1_2_7_13_1","unstructured":"Viewpoint page on GE Healthcare website. \u201cViewPoint\u2122 6 Ultrasound Reporting Software for Women's Health.\u201d. 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