{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T20:12:31Z","timestamp":1790107951943,"version":"4.0.1"},"reference-count":31,"publisher":"MDPI AG","issue":"22","license":[{"start":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T00:00:00Z","timestamp":1731456000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Objective. Our objective was to assess the proportion of false-positive CHD cases at the first-trimester evaluation of the fetal heart, performed by experienced operators. Methods. This multicenter retrospective study included of pregnant women with suspicion of CHDs during first-trimester screening for aneuploidies. In all cases, the fetal heart assessments were performed by obstetricians with extensive experience in first-trimester scanning, following an extended protocol proposed by SIEOG national guidelines, which included an axial view of the fetal abdomen and chest to assess visceral situs and evaluation of the four-chamber view (4CV) and three-vessel trachea view (3VTV) with color Doppler. In all suspected cases, fetal echocardiography was offered within 16 and\/or at 19\u201322 weeks\u2019 gestation. Results. From a population of 4300 fetuses, 46 CHDs were suspected. Twenty-four cases were excluded from this analysis because the parents opted for early termination of the pregnancies due to associated structural and\/or genetic anomalies. For the remaining 22, echocardiography was performed by 16 weeks in 14 cases (64%) and after 16 weeks in 8 cases. In 19 cases (86.4%), a fetal cardiologist confirmed the presence of a CHD. In three cases (13%), the cardiac anatomy was found to be normal at the fetal echocardiography and postnatally. Conclusions. This study shows that the proportion of false-positive cases at the first-trimester ultrasound examination of the fetal heart, performed by experienced operators, may carry a higher risk of false-positive diagnosis than expected. Therefore, this issue must be discussed in instances where a CHD is suspected at the first-trimester screening.<\/jats:p>","DOI":"10.3390\/diagnostics14222543","type":"journal-article","created":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T09:59:11Z","timestamp":1731491951000},"page":"2543","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["False-Positive Diagnosis of Congenital Heart Defects at First-Trimester Ultrasound: An Italian Multicentric Study"],"prefix":"10.3390","volume":"14","author":[{"given":"Silvia","family":"Andrietti","sequence":"first","affiliation":[{"name":"Fetal and Perinatal Medicine Unit, IRCCS Policlinico San Martino, 16132 Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"D\u2019Agostino","sequence":"additional","affiliation":[{"name":"Obstetrics & Gynaecology Department, San Giovanni di Dio Hospital, 88900 Crotone, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Panarelli","sequence":"additional","affiliation":[{"name":"Fetal Medicine Unit, Di Venere Hospital, 70131 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0454-7946","authenticated-orcid":false,"given":"Laura","family":"Sarno","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Reproductive Science and Dentistry, University Federico II, 80138 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Laura","family":"Pisaturo","sequence":"additional","affiliation":[{"name":"Obstetrics & Gynaecology Unit, San Carlo Hospital, 85100 Potenza, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4340-7225","authenticated-orcid":false,"given":"Ilaria","family":"Fantasia","sequence":"additional","affiliation":[{"name":"Obstetrics & Gynaecology Unit, San Salvatore Hospital, 67100 L\u2019 Aquila, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,11,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1890","DOI":"10.1016\/S0735-1097(02)01886-7","article-title":"The incidence of congenital heart disease","volume":"39","author":"Hoffman","year":"2002","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1002\/pd.682","article-title":"22q11 deletions in foetuses with malformations of the outflow tracts or interruption of the aortic arch: Impact of additional ultrasound signs","volume":"23","author":"Volpe","year":"2003","journal-title":"Prenat. Diagn."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1002\/pd.1072","article-title":"The influence of prenatal diagnosis on postnatal outcomein patients with structural congenital heart disease","volume":"24","author":"Yates","year":"2011","journal-title":"Prenat. Diagn."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1161\/01.CIR.99.7.916","article-title":"Detection of transposition of the great arteries in fetuses reduces neonatal morbidity and mortality","volume":"99","author":"Bonnet","year":"1999","journal-title":"Circulation"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"e1759","DOI":"10.1097\/MD.0000000000001759","article-title":"Diagnostic Value of Fetal Echocardiography for Congenital Heart Disease: A Systematic Review and Meta-Analysis","volume":"94","author":"Zhang","year":"2015","journal-title":"Medicine"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1002\/pd.3837","article-title":"Prenatal diagnosis of cardiac defects: Accuracy and benefit","volume":"32","author":"Clur","year":"2012","journal-title":"Prenat. Diagn."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.ajog.2004.03.090","article-title":"Nuchal translucency and other first trimester sonographic markers of chromosomal abnormalities","volume":"191","author":"Nicolaides","year":"2004","journal-title":"Am. J. Obstet. Gynecol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1159\/000324320","article-title":"Turning the pyramid of prenatal care","volume":"29","author":"Nicolaides","year":"2011","journal-title":"Fetal Diagn. Ther."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1002\/uog.20844","article-title":"Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11\u201313\u2009weeks\u2019 gestation","volume":"54","author":"Syngelaki","year":"2019","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1002\/uog.17246","article-title":"Systematic review of first-trimester ultrasound screening for detection of fetal structural anomalies and factors that affect screening performance","volume":"50","author":"Karim","year":"2017","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1002\/jum.15123","article-title":"Performance of First-Trimester Fetal Echocardiography in Diagnosing Fetal Heart Defects: Meta-analysis and Systematic Review","volume":"39","author":"Yu","year":"2020","journal-title":"J. Ultrasound Med."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1002\/uog.12517","article-title":"Comparison of echocardiographic findings in fetuses at less than 15\u2009weeks\u2019 gestation with later cardiac evaluation","volume":"42","author":"Zidere","year":"2013","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1002\/pd.4466","article-title":"Early detection of fetal cardiac abnormalities: How effective is it and how should we manage these patients?","volume":"34","author":"Clur","year":"2014","journal-title":"Prenat. Diagn."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1002\/uog.7685","article-title":"Reliability of the first-trimester cardiac scan by ultrasound-trained obstetricians with high-frequency transabdominal probes in fetuses with increased nuchal translucency","volume":"36","author":"Bellotti","year":"2010","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1002\/uog.8934","article-title":"Fetal echocardiography at 11\u201313 weeks by transabdominal high-frequency ultrasound","volume":"37","author":"Persico","year":"2011","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1002\/pd.2831","article-title":"Fetal cardiac evaluation at 11\u201314 weeks by experienced obstetricians in a low-risk population","volume":"31","author":"Volpe","year":"2011","journal-title":"Prenat. Diagn."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1046\/j.1469-0705.2000.00291.x","article-title":"Early screening forfetal cardiac anomalies by transvaginal echocardiography in an unselectedpopulation: The role of operator experience","volume":"16","author":"Rustico","year":"2000","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1002\/uog.23740","article-title":"First-trimester ultrasound detection of fetal heart anomalies: Systematic review and meta-analysis","volume":"59","author":"Karim","year":"2022","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_19","unstructured":"The Italian Society for Ultrasound in Obstetrics and Gynecology (SIEOG) (2022). The Italian guidelines on ultrasound in obstetrics and gynecology: Executive summary of recommendations for practice. Eur. J. Obstet. Gynecol., 279, 176\u2013182."},{"key":"ref_20","unstructured":"(2021, December 01). Available online: https:\/\/www.sieog.it\/wp-content\/uploads\/2021\/12\/Manuale-metodologie-SIEOG-2024_compressed.pdf."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"International Society of Ultrasound in Obstetrics and Gynecology, Bilardo, C.M., Chaoui, R., Hyett, J.A., Kagan, K.O., Karim, J.N., Papageorghiou, A.T., Poon, L.C., Salomon, L.J., and Syngelaki, A. (2023). ISUOG Practice Guidelines (updated): Performance of 11-14-week ultrasound scan. Ultrasound Obstet. Gynecol., 61, 127\u2013143.","DOI":"10.1002\/uog.26106"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/pd.2637","article-title":"Screening for fetal aneuploidies at 11 to 13 weeks","volume":"31","author":"Nicolaides","year":"2011","journal-title":"Prenat. Diagn."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1002\/uog.24888","article-title":"ISUOG Practice Guidelines (updated): Performance of the routine mid-trimester fetal ultrasound scan","volume":"59","author":"Salomon","year":"2022","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1002\/uog.21956","article-title":"Diagnosis of major heart defects by routine first-trimester ultrasound examination: Association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus","volume":"55","author":"Minnella","year":"2020","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1002\/pd.5067","article-title":"The three-vessel and trachea view (3VTV) in the first trimester of pregnancy: An additional tool in screening for congenital heart defects (CHD) in an unselected population: The three-vessel and trachea view in the first trimester","volume":"37","author":"Rembouskos","year":"2017","journal-title":"Prenat. Diagn."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1002\/uog.23572","article-title":"First-trimester fetal heart evaluation: Time to move forward","volume":"57","author":"Turan","year":"2021","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1515\/jpm-2022-0125","article-title":"First trimester examination of fetal anatomy: Clinical practice guideline by the World Association of Perinatal Medicine (WAPM) and the Perinatal Medicine Foundation (PMF)","volume":"50","author":"Volpe","year":"2022","journal-title":"J. Perinat. Med."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1002\/uog.17484","article-title":"Analysis of cell-free DNA in maternal blood in screening for aneuploidies: Updated meta-analysis","volume":"50","author":"Gil","year":"2017","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1002\/uog.26094","article-title":"Prenatal detection of congenital heart disease at 12\u201313 gestational weeks: Detailed analysis of false-negative cases","volume":"61","author":"Bottelli","year":"2023","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Allary, M., and Quarello, E. (2024). Comment je fais\u2026 Optimiser mes r\u00e9glages Doppler pour une analyse du c\u0153ur f\u0153tal au premier trimestre de la grossesse? [How do I\u2026 optimize my Doppler settings for a fetal heart analysis during my first-trimester scan?]. Gyn\u00e9cologie Obst\u00e9trique Fertilit\u00e9 & S\u00e9nologie, Elsevier.","DOI":"10.1016\/j.gofs.2024.05.002"},{"key":"ref_31","doi-asserted-by":"crossref","unstructured":"Bardi, F., Bakker, M., Kenkhuis, M.J.A., Ranchor, A.V., Bakker, M.K., Elvan, A., Birnie, E., and Bilardo, C.M. (2021). Psychological outcomes, knowledge and preferences of pregnant women on first-trimester screening for fetal structural abnormalities: A prospective cohort study. PLoS ONE, 16.","DOI":"10.1371\/journal.pone.0245938"}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/14\/22\/2543\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T16:31:38Z","timestamp":1760113898000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/14\/22\/2543"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,13]]},"references-count":31,"journal-issue":{"issue":"22","published-online":{"date-parts":[[2024,11]]}},"alternative-id":["diagnostics14222543"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics14222543","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,13]]}}}