{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T17:20:04Z","timestamp":1790961604727,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,4,7]],"date-time":"2023-04-07T00:00:00Z","timestamp":1680825600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ultrasound in Obstet &amp; Gyne"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To report on the early detection of congenital heart disease (CHD) in low\u2010 and high\u2010risk populations managed at our hospital; and perform a detailed analysis of false\u2010negative diagnoses, in order to derive possible recommendations on how to reduce their incidence.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This was a retrospective observational study analyzing cases which underwent an ultrasound examination at the end of the first trimester at the Fetal Medicine and Surgery Unit of Gaslini Children's Hospital, Genoa, Italy, in the period January 2015 to December 2021. The study population included both low\u2010risk pregnancies that underwent standard first\u2010trimester combined screening and high\u2010risk ones referred to our unit because of a positive combined test or suspicion of fetal anomalies raised in a regional community hospital. For each case, the following variables were retrieved and analyzed: number of fetuses, maternal body mass index, gestational age at first\u2010trimester screening, whether the pregnancy was low or high risk, nuchal translucency thickness (normal or &gt;\u200999<jats:sup>th<\/jats:sup>\u00a0centile), type of CHD, associated extracardiac anomalies, karyotype and pregnancy outcome. For low\u2010risk pregnancies, suspicion of CHD was also recorded. In low\u2010risk cases, sonographic cardiac screening comprised evaluation of the four\u2010chamber view (grayscale and color\/power Doppler) and three\u2010vessel\u2010and\u2010trachea view (color\/power Doppler). High\u2010risk cases underwent early fetal echocardiography. False\u2010negative cases were categorized according to likely cause of the missed diagnosis, as follows: human factor; technical factor; acoustic\u2010window factor.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Gestational age at ultrasound ranged from 12\u2009+\u20090 to 13\u2009+\u20096\u2009weeks (crown\u2013rump length (CRL), 50.1\u201384.0\u2009mm) in the low\u2010risk group and from 11\u2009+\u20095 to 13\u2009+\u20096\u2009weeks (CRL, 45.1\u201384.0\u2009mm) in the high\u2010risk group. Over the 7\u2010year study period, 7080 pregnancies were evaluated in the first trimester. Of these, 6879 (7167 fetuses) were low\u2010risk and 201 were high\u2010risk cases. In the low\u2010risk group, there were 30 fetuses with CHD (including 15 major and 15 minor CHD), yielding a prevalence of 4.2\/1000 (2.1\/1000 for major CHD). Nine of the 30 CHD cases were suspected at screening ultrasound (7\/15 major CHD). Excluding cases in which the CHD would not be expected to be associated with a modification of the screening views and would therefore not be detectable on screening ultrasound, 7\/12\u2009cases of major CHD were detected, corresponding to a sensitivity of 58.3%. Among the 201 high\u2010risk cases, there were 46 fetuses with CHD (including 44 major and two minor CHD), of which 43 were detected, corresponding to a sensitivity for early fetal echocardiography of 93.5%, or 97.7% if the two cases that were unlikely to be detectable on first\u2010trimester screening were excluded. Analysis of the 11 (of 24) false\u2010negative cases that would be expected to be picked up on screening views revealed that human error (image interpretation and\/or scanning approach) was involved in all 11\u2009cases and technical factors (excessive color priority (color\u2010balance function) and\/or incorrect plane alignment) were present in two. There was impairment of the acoustic window (associated with maternal obesity and\/or twin gestation) as a cofactor in five of the 11\u2009cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The sensitivity for detection of major CHD of early cardiac screening in low\u2010risk pregnancy is under 60%, partly due to the natural history of CHD and, it seems, partly relating to human error and technical issues with image quality. Factors associated with false\u2010negative diagnoses may be categorized into three types: human error, technical factors and acoustic\u2010window impairment. We recommend: appropriate assessment with fetal posterior spine; that sufficient time is spent on assessment of the fetal situs; and that color\/power Doppler settings are adapted to the individual case. A lower threshold for referring doubtful cases for early fetal echocardiography should be adopted in cases of maternal obesity and in twin gestation. \u00a9 2022 The Authors. <jats:italic>Ultrasound in Obstetrics &amp; Gynecology<\/jats:italic> published by John Wiley &amp; Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.<\/jats:p><\/jats:sec>","DOI":"10.1002\/uog.26094","type":"journal-article","created":{"date-parts":[[2022,10,14]],"date-time":"2022-10-14T21:37:45Z","timestamp":1665783465000},"page":"577-586","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Prenatal detection of congenital heart disease at 12\u201313 gestational weeks: detailed analysis of false\u2010negative cases"],"prefix":"10.1002","volume":"61","author":[{"given":"L.","family":"Bottelli","sequence":"first","affiliation":[{"name":"Fetal Medicine and Surgery Unit IRCCS Istituto Giannina Gaslini  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Franz\u00e8","sequence":"additional","affiliation":[{"name":"Fetal Medicine and Surgery Unit IRCCS Istituto Giannina Gaslini  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Tuo","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Unit IRCCS Istituto Giannina Gaslini  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Buffelli","sequence":"additional","affiliation":[{"name":"Fetopathology Unit IRCCS Istituto Giannina Gaslini  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5102-6062","authenticated-orcid":false,"given":"D.","family":"Paladini","sequence":"additional","affiliation":[{"name":"Fetal Medicine and Surgery Unit IRCCS Istituto Giannina Gaslini  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,4,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.24888"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/jum.14831"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gyobfe.2015.04.001"},{"key":"e_1_2_8_5_1","unstructured":"SIEOG.Sistema Nazionale per le Linee Guida: Linee Guida per Ecografia Ostetrica e Ginecologica [SIEOG Guidelines for Ultrasound in Obstetrics and Gynecology].Editeam 2021.https:\/\/www.sieog.it\/linee\u2010guida2021\/"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.26106"},{"key":"e_1_2_8_7_1","first-page":"E1","article-title":"AIUM practice parameter for the performance of detailed diagnostic obstetric ultrasound examinations between 12\u2009weeks 0\u2009days and 13\u2009weeks 6\u2009days","volume":"40","year":"2021","journal-title":"J Ultrasound Med"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.7863\/ultra.34.4.585"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5067"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2012.31.4.563"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/jum.15123"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpm-2018-0436"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.20844"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.3854"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4348"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpm-2019-0222"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12517"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.23740"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12488"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1080\/14767058.2019.1637849"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.2399\/prn.19.0273008"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/jum.14807"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36867"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.18932"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2007.26.11.1491"}],"container-title":["Ultrasound in Obstetrics &amp; 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