{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T18:39:24Z","timestamp":1764700764229,"version":"3.40.5"},"reference-count":33,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,2,21]],"date-time":"2020-02-21T00:00:00Z","timestamp":1582243200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>OBJECTIVE<\/jats:title><jats:p>To (a) evaluate the proportion of women where a unifying genetic diagnosis was obtained following assessment of an observed pattern of fetal anomalies and (b) assess trends in genetic testing in a joint fetal\u2010medicine genetic clinic.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHOD<\/jats:title><jats:p>Retrospective cohort study of all women attending the clinic. Outcomes included (a) indication for referral, (b) genetic test performed and (c) diagnoses obtained.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>From 2008 to 2019, 256 patients were referred and reviewed, of which 23% (n = 59) were consanguineous. The main indication for referral was the observed pattern of fetal anomalies. Over 10\u2009years, the number of patients reviewed increased from 11 to 35 per annum. A unifying genetic diagnosis was obtained in 43.2% (n = 79\/183), the majority of which were diagnosed prenatally (50.6% [n = 40\/79]). The main investigation(s) that was the ultimate diagnostic test was targeted gene panel sequencing 34.2% (n = 27\/79), with this and exome sequencing becoming the dominant genetic test by 2019. Pregnancies reviewed due to an abnormal karyotype or microarray decreased as an indication for referral during the study period (21.6% [n = 16\/74] 2008\u20102012 vs 16.5% [n = 30\/182] in 2012\u20102019).<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSION<\/jats:title><jats:p>A prenatal genetic clinic with a structured multi\u2010disciplinary team approach may be successful in obtaining a unifying prenatal genetic diagnosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5661","type":"journal-article","created":{"date-parts":[[2020,2,10]],"date-time":"2020-02-10T08:05:01Z","timestamp":1581321901000},"page":"618-625","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Evolution of a prenatal genetic clinic\u2014A 10\u2010year cohort study"],"prefix":"10.1002","volume":"40","author":[{"given":"Fionnuala","family":"Mone","sequence":"first","affiliation":[{"name":"Fetal Medicine Centre Birmingham Women's and Children's NHS Foundation Trust  Birmingham UK"},{"name":"West Midlands Regional Genetics Laboratory and Clinical Genetics Service Birmingham Women's and Children's NHS Foundation Trust  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7606-4030","authenticated-orcid":false,"given":"Clare","family":"O'Connor","sequence":"additional","affiliation":[{"name":"Fetal Medicine Centre Birmingham Women's and Children's NHS Foundation Trust  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Hamilton","sequence":"additional","affiliation":[{"name":"West Midlands Regional Genetics Laboratory and Clinical Genetics Service Birmingham Women's and Children's NHS Foundation Trust  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Quinlan\u2010Jones","sequence":"additional","affiliation":[{"name":"Fetal Medicine Centre Birmingham Women's and Children's NHS Foundation Trust  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie","family":"Allen","sequence":"additional","affiliation":[{"name":"West Midlands Regional Genetics Laboratory and Clinical Genetics Service Birmingham Women's and Children's NHS Foundation Trust  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamas","family":"Marton","sequence":"additional","affiliation":[{"name":"West Midlands Perinatal Pathology Service Birmingham Women's and Children's NHS Foundation Trust  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise","family":"Williams","sequence":"additional","affiliation":[{"name":"West Midlands Regional Genetics Laboratory and Clinical Genetics Service Birmingham Women's and Children's NHS Foundation Trust  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark D.","family":"Kilby","sequence":"additional","affiliation":[{"name":"Fetal Medicine Centre Birmingham Women's and Children's NHS Foundation Trust  Birmingham UK"},{"name":"Institute of Metabolism and Systems Research, College of Medical &amp; Dental Sciences University of Birmingham  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,2,21]]},"reference":[{"issue":"4","key":"e_1_2_9_2_1","first-page":"F452","article-title":"Exome sequencing in the assessment of congenital malformations in the fetus and neonate","volume":"104","author":"Mone F","year":"2019","journal-title":"Arch Dis Child Fetal Neonatal Ed"},{"volume-title":"Twining's Textbook of Fetal Abnormalities","year":"2017","author":"Coady AM","key":"e_1_2_9_3_1"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(18)32042-7"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1203382"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2006.110619"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5537"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-019-0651-9"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2018.10.016"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5532"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0298-8"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2018.30"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1080\/14737159.2018.1493924"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5197"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12464"},{"volume-title":"Efficacy and Mechanism Evaluation","year":"2017","author":"Robson SC","key":"e_1_2_9_16_1"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(18)31940-8"},{"key":"e_1_2_9_18_1","unstructured":"NHS England. 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