{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T09:58:52Z","timestamp":1780567132724,"version":"3.54.1"},"reference-count":128,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2022,5,27]],"date-time":"2022-05-27T00:00:00Z","timestamp":1653609600000},"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>Cardiovascular malformations (CVM) represent the most common structural anomalies, occurring in 0.7% of live births. The CVM prenatal suspicion should prompt an accurate investigation with fetal echocardiography and the assessment through genetic counseling and testing. In particular, chromosomal microarray analysis (CMA) allows the identification of copy number variations. We performed a systematic review and meta-analysis of the literature, studying the incremental diagnostic yield of CMA in fetal isolated CVM, scoring yields for each category of heart disease, with the aim of guiding genetic counseling and prenatal management. At the same time, we report 59 fetuses with isolated CVM with normal karyotype who underwent CMA. The incremental CMA diagnostic yield in fetuses with isolated CVM was 5.79% (CI 5.54\u20136.04), with conotruncal malformations showing the higher detection rate (15.93%). The yields for ventricular septal defects and aberrant right subclavian artery were the lowest (2.64% and 0.66%). Other CVM ranged from 4.42% to 6.67%. In the retrospective cohort, the diagnostic yield was consistent with literature data, with an overall CMA diagnostic yield of 3.38%. CMA in the prenatal setting was confirmed as a valuable tool for investigating the causes of fetal cardiovascular malformations.<\/jats:p>","DOI":"10.3390\/diagnostics12061328","type":"journal-article","created":{"date-parts":[[2022,5,28]],"date-time":"2022-05-28T01:40:45Z","timestamp":1653702045000},"page":"1328","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis"],"prefix":"10.3390","volume":"12","author":[{"given":"Gioia","family":"Mastromoro","sequence":"first","affiliation":[{"name":"Department of Experimental Medicine, Policlinico Umberto I Hospital, Sapienza University of Rome, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4351-8622","authenticated-orcid":false,"given":"Nader","family":"Khaleghi Hashemian","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Policlinico Umberto I Hospital, Sapienza University of Rome, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4588-1131","authenticated-orcid":false,"given":"Daniele","family":"Guadagnolo","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Policlinico Umberto I Hospital, Sapienza University of Rome, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Grazia","family":"Giuffrida","sequence":"additional","affiliation":[{"name":"Cytogenetics Unit, Casa Sollievo della Sofferenza Foundation, 71013 San Giovanni Rotondo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Torres","sequence":"additional","affiliation":[{"name":"Cytogenetics Unit, Casa Sollievo della Sofferenza Foundation, 71013 San Giovanni Rotondo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3554-2817","authenticated-orcid":false,"given":"Laura","family":"Bernardini","sequence":"additional","affiliation":[{"name":"Cytogenetics Unit, Casa Sollievo della Sofferenza Foundation, 71013 San Giovanni Rotondo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flavia","family":"Ventriglia","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Policlinico Umberto I Hospital, Sapienza University of Rome, 00161 Rome, Italy"},{"name":"Santa Maria Goretti Hospital, 04100 Latina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6854-8441","authenticated-orcid":false,"given":"Gerardo","family":"Piacentini","sequence":"additional","affiliation":[{"name":"Fetal and Pediatric Cardiology Unit, \u201cSan Giovanni Calibita\u201d Fatebenefratelli Isola Tiberina Hospital, 00186 Rome, Italy"},{"name":"Neonatology and Neonatal Intensive Care Unit, \u201cSan Giovanni Calibita\u201d Fatebenefratelli Isola Tiberina Hospital, 00186 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Pizzuti","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Policlinico Umberto I Hospital, Sapienza University of Rome, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,5,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1136\/heart.83.4.414","article-title":"Temporal variability in birth prevalence of cardiovascular malformations","volume":"83","author":"Wren","year":"2000","journal-title":"Heart"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1016\/S0733-8651(18)30138-3","article-title":"Congenital heart disease in adolescents and adults. Teratology, genetics, and recurrence risks","volume":"11","author":"Ferencz","year":"1993","journal-title":"Cardiol. Clin."},{"key":"ref_3","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_4","doi-asserted-by":"crossref","first-page":"1545","DOI":"10.1016\/0735-1097(95)00358-4","article-title":"High prevalence of muscular ventricular septal defect in neonates","volume":"26","author":"Roguin","year":"1995","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1016\/j.ahj.2003.05.003","article-title":"Prevalence of congenital heart disease","volume":"147","author":"Hoffman","year":"2004","journal-title":"Am. Heart J."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1002\/uog.14695","article-title":"Array comparative genomic hybridization and fetal congenital heart defects: A systematic review and meta-analysis","volume":"45","author":"Jansen","year":"2015","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"2183","DOI":"10.1161\/01.cir.0000437597.44550.5d","article-title":"Diagnosis and treatment of fetal cardiac disease: A scientific statement from the American Heart Association","volume":"129","author":"Donofrio","year":"2014","journal-title":"Circulation"},{"key":"ref_8","first-page":"E5","article-title":"AIUM practice parameter for the performance of fetal echocardiography","volume":"39","author":"Lee","year":"2020","journal-title":"J. Ultrasound Med."},{"key":"ref_9","doi-asserted-by":"crossref","unstructured":"Mastromoro, G., Guadagnolo, D., Khaleghi Hashemian, N., Marchionni, E., Traversa, A., and Pizzuti, A. (2022). Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges\u2014Systematic Review of the Literature and Meta-Analysis. Diagnostics, 12.","DOI":"10.3390\/diagnostics12030575"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"105906","DOI":"10.1016\/j.ijsu.2021.105906","article-title":"The PRISMA 2020 statement: An updated guideline for reporting systematic reviews","volume":"88","author":"Page","year":"2021","journal-title":"Int. J. Surg."},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Mastromoro, G., Pizzuti, A., and Ventriglia, F. (2020). Role of ductus venosus agenesis in right ventricle development. J. Matern.-Fetal Neonatal Med., 1\u20134. online ahead of print.","DOI":"10.1080\/14767058.2020.1810231"},{"key":"ref_12","first-page":"346","article-title":"Genetic and environmental risk factors of major cardiovascular malformations: The Baltimore-Washington infant study 1981\u20131989","volume":"5","author":"Ferencz","year":"1997","journal-title":"Perspect. Pediatr. Cardiol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1016\/j.echo.2004.04.011","article-title":"American Society of Echocardiography guidelines and standards for performance of the fetal echocardiogram","volume":"17","author":"Rychik","year":"2004","journal-title":"J. Am. Soc. Echocardiogr."},{"key":"ref_14","first-page":"245","article-title":"Technical standards for the interpretation and reporting of constitutional copy-number variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)","volume":"22","author":"Riggs","year":"2020","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1093\/humrep\/den387","article-title":"Assisted reproductive technology and major structural birth defects in the United States","volume":"24","author":"Reefhuis","year":"2009","journal-title":"Hum. Reprod."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"16031","DOI":"10.1038\/npjgenmed.2016.31","article-title":"The importance of copy number variation in congenital heart disease","volume":"1","author":"Costain","year":"2016","journal-title":"NPJ Genom. Med."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1002\/uog.13236","article-title":"Detection of submicroscopic chromosomal aberrations by array-based comparative genomic hybridization in fetuses with congenital heart disease","volume":"43","author":"Yan","year":"2014","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"655463","DOI":"10.3389\/fcvm.2021.655463","article-title":"Contribution of Congenital Heart Disorders Associated with Copy Number Variants in Mediating Risk for Brain Developmental Disorders: Evidence from 20-Year Retrospective Cohort Study","volume":"8","author":"Dowden","year":"2021","journal-title":"Front. Cardiovasc. Med."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1161\/CIRCRESAHA.112.300853","article-title":"Genetics of congenital heart disease: The glass half empty","volume":"112","author":"Fahed","year":"2013","journal-title":"Circ. Res."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"2157","DOI":"10.21037\/tp-20-315","article-title":"The current state of prenatal detection of genetic conditions in congenital heart defects","volume":"10","author":"Findley","year":"2021","journal-title":"Transl. Pediatr."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1097\/OGX.0000000000000702","article-title":"Congenital heart disease: Prenatal diagnosis and genetic associations","volume":"74","author":"Hopkins","year":"2019","journal-title":"Obstet. Gynecol. Surv."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.bpobgyn.2017.01.003","article-title":"Microarrays in Prenatal diagnosis","volume":"42","author":"Oneda","year":"2017","journal-title":"Best Pract. Res. Clin. Obstet. Gynaecol."},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Cavoretto, P.I., Sotiriadis, A., Girardelli, S., Spinillo, S., Candiani, M., Amodeo, S., Farina, A., and Fesslova, V. (2020). Postnatal outcome and associated anomalies of prenatally diagnosed right aortic arch with concomitant right ductal arch: A systematic review and meta-analysis. Diagnostics, 10.","DOI":"10.3390\/diagnostics10100831"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1007\/s12519-019-00289-5","article-title":"A review of isolated muscular ventricular septal defect","volume":"16","author":"Miyake","year":"2020","journal-title":"World J. Clin. Pediatr."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1455","DOI":"10.1007\/s00404-021-06067-x","article-title":"Prenatal diagnosis, associated findings and postnatal outcome of fetuses with truncus arteriosus communis (TAC)","volume":"304","author":"Abel","year":"2021","journal-title":"Arch. Gynecol. Obstet."},{"key":"ref_26","first-page":"582","article-title":"Prenatal Identification of Aberrant Right Subclavian Artery in Isolation: The Need for Further Genetic Work-Up?","volume":"59","author":"Ayaz","year":"2020","journal-title":"Acta Clin. Croat."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1002\/uog.3883","article-title":"Right aortic arch detected in fetal life","volume":"28","author":"Berg","year":"2006","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1002\/bdr2.1648","article-title":"Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects","volume":"112","author":"Berisha","year":"2020","journal-title":"Birth Defects Res."},{"key":"ref_29","doi-asserted-by":"crossref","unstructured":"Chang, C.-S., Hong, S.-Y., Kim, S.-Y., Kim, Y.-M., Sung, J.-H., Choi, S.-J., Oh, S.-Y., Roh, C.-R., Song, J., and Huh, J. (2021). Prevalence of associated extracardiac anomalies in prenatally diagnosed congenital heart diseases. PLoS ONE, 16.","DOI":"10.1371\/journal.pone.0248894"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1002\/ajmg.a.62484","article-title":"Congenital heart defects and copy number variants associated with neurodevelopmental impairment","volume":"188","author":"Findley","year":"2022","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1002\/uog.2807","article-title":"Prenatal diagnosis and outcome for fetuses with congenital absence of the pulmonary valve","volume":"28","author":"Galindo","year":"2006","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1275","DOI":"10.1017\/S1047951121000202","article-title":"Chromosomal microarray detects genetic risks of neurodevelopmental disorders in newborns with congenital heart disease","volume":"31","author":"Gill","year":"2021","journal-title":"Cardiol. Young"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1097\/MD.0000000000005552","article-title":"Application of array-comparative genomic hybridization in tetralogy of Fallot","volume":"95","author":"Liu","year":"2016","journal-title":"Medicine"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1136\/heartjnl-2013-304860","article-title":"Right aortic arch diagnosed antenatally: Associations and outcome in 98 fetuses","volume":"100","author":"Miranda","year":"2014","journal-title":"Heart"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1159\/000512488","article-title":"The Diagnostic Yield of Prenatal Genetic Technologies in Congenital Heart Disease: A Prospective Cohort Study","volume":"48","author":"Mone","year":"2021","journal-title":"Fetal Diagn. Ther."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"2068","DOI":"10.1016\/j.ajog.2004.05.022","article-title":"Prenatal diagnosis of aneuploidy and deletion 22q11. 2 in fetuses with ultrasound detection of cardiac defects","volume":"191","author":"Moore","year":"2004","journal-title":"Am. J. Obstet. Gynecol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/j.jbiotec.2019.04.025","article-title":"Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases","volume":"299","author":"Nagy","year":"2019","journal-title":"J. Biotechnol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1080\/01443615.2017.1399989","article-title":"Aortic arch anomalies detected in foetal life by echocardiography","volume":"38","author":"Oztunc","year":"2018","journal-title":"J. Obstet. Gynecol."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1002\/uog.3971","article-title":"Tetralogy of Fallot in the fetus in the current era","volume":"29","author":"Poon","year":"2007","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1016\/j.ejmg.2013.04.001","article-title":"Variable behavioural phenotypes of patients with monosomies of 15q26 and a review of 16 cases","volume":"56","author":"Poot","year":"2013","journal-title":"Eur. J. Med. Genet."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1002\/pd.3942","article-title":"Aberrant right subclavian artery (ARSA) in unselected population at first and second trimester ultrasonography","volume":"32","author":"Rembouskos","year":"2012","journal-title":"Prenat. Diagn."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"617561","DOI":"10.3389\/fcvm.2020.617561","article-title":"Genetics and clinical features of noncompaction cardiomyopathy in the fetal population","volume":"7","author":"Sun","year":"2021","journal-title":"Front. Cardiovasc. Med."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1501","DOI":"10.1136\/hrt.2005.083295","article-title":"Prenatally diagnosed pulmonary atresia with ventricular septal defect: Echocardiography, genetics, associated anomalies and outcome","volume":"92","author":"Vesel","year":"2006","journal-title":"Heart"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"1437","DOI":"10.1136\/heart.89.12.1437","article-title":"Common arterial trunk in the fetus: Characteristics, associations, and outcome in a multicentre series of 23 cases","volume":"89","author":"Volpe","year":"2003","journal-title":"Heart"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1002\/uog.1729","article-title":"Characteristics, associations and outcome of absent pulmonary valve syndrome in the fetus","volume":"24","author":"Volpe","year":"2004","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1768","DOI":"10.3109\/14767058.2013.799648","article-title":"Association of SNPs in genes involved in folate metabolism with the risk of congenital heart disease","volume":"26","author":"Wang","year":"2013","journal-title":"J. Matern.-Fetal Neonatal Med."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1002\/uog.11193","article-title":"Prenatal diagnosis and outcome of absent pulmonary valve syndrome: Contemporary single-center experience and review of the literature","volume":"41","author":"Wertaschnigg","year":"2013","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_48","doi-asserted-by":"crossref","unstructured":"Wu, X.-L., Li, R., Fu, F., Pan, M., Han, J., Yang, X., Zhang, Y.-L., Li, F.-T., and Liao, C. (2017). Chromosome microarray analysis in the investigation of children with congenital heart disease. BMC Pediatr., 17.","DOI":"10.1186\/s12887-017-0863-3"},{"key":"ref_49","first-page":"3732","article-title":"Next-generation sequencing identified genetic variations in families with fetal non-syndromic atrioventricular septal defects","volume":"11","author":"Xu","year":"2018","journal-title":"Int. J. Clin. Exp. Pathol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"3273","DOI":"10.21037\/tp-21-560","article-title":"22q11. 2 recurrent copy number variation-related syndrome: A retrospective analysis of our own microarray cohort and a systematic clinical overview of ClinGen curation","volume":"10","author":"Xue","year":"2021","journal-title":"Transl. Pediatr."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1002\/pd.5238","article-title":"Chromosomal aberrations and CNV s in twin fetuses with cardiovascular anomalies: Comparison between monochorionic diamniotic and dichorionic diamniotic twins","volume":"38","author":"Zhang","year":"2018","journal-title":"Prenat. Diagn."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1002\/uog.3841","article-title":"Right aortic arch in the fetus","volume":"28","author":"Zidere","year":"2006","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"029","DOI":"10.1055\/s-0041-1736566","article-title":"Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period","volume":"9","author":"Atli","year":"2022","journal-title":"Glob. Med. Genet."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"463","DOI":"10.7150\/ijbs.5404","article-title":"Karyotypic and molecular genetic changes associated with fetal cardiovascular abnormalities: Results of a retrospective 4-year ultrasonic diagnosis study","volume":"9","author":"Bao","year":"2013","journal-title":"Int. J. Biol. Sci."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"e13617","DOI":"10.1097\/MD.0000000000013617","article-title":"Fetal congenital heart disease: Associated anomalies, identification of genetic anomalies by single-nucleotide polymorphism array analysis, and postnatal outcome","volume":"97","author":"Cai","year":"2018","journal-title":"Medicine"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"345","DOI":"10.2147\/RMHP.S286001","article-title":"SNP array as a tool for Prenatal diagnosis of congenital heart disease screened by echocardiography: Implications for precision assessment of fetal prognosis","volume":"14","author":"Huang","year":"2021","journal-title":"Risk Manag. Healthc. Policy"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1002\/pd.4767","article-title":"Chromosomal abnormalities and copy number variations in fetal left-sided congenital heart defects","volume":"36","author":"Jansen","year":"2016","journal-title":"Prenat. Diagn."},{"key":"ref_58","first-page":"6","article-title":"Prevalence of chromosomal abnormalities and 22q11. 2 deletion in conotruncal and non-conotruncal antenatally diagnosed congenital heart diseases in a Chinese population","volume":"25","author":"Kong","year":"2019","journal-title":"Hong Kong Med. J."},{"key":"ref_59","doi-asserted-by":"crossref","unstructured":"Kowalczyk, K., Bartnik-G-laska, M., Smyk, M., Plaskota, I., Bernaciak, J., Kedzior, M., Wi\u00b4sniowiecka-Kowalnik, B., Jakub\u00b4ow-Durska, K., Braun-Walicka, N., and Barczyk, A. (2021). Prenatal diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities. Genes, 12.","DOI":"10.3390\/genes12122021"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1002\/pd.4383","article-title":"Prenatal diagnosis of congenital heart defect by genome-wide high-resolution SNP array","volume":"34","author":"Liao","year":"2014","journal-title":"Prenat. Diagn."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1080\/14767058.2018.1517316","article-title":"Prenatal diagnosis of chromosomal aberrations in fetuses with conotruncal heart defects by genome-wide high-resolution SNP array","volume":"33","author":"Lin","year":"2020","journal-title":"J. Matern.-Fetal Neonatal Med."},{"key":"ref_62","first-page":"571","article-title":"Genetic testing and pregnancy outcome analysis of 362 fetuses with congenital heart disease identified by prenatal ultrasound","volume":"111","author":"Luo","year":"2018","journal-title":"Arq. Bras. Cardiol."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1002\/uog.12372","article-title":"Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: Evaluation of chromosomal microarray-based analysis","volume":"41","author":"Morales","year":"2013","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1007\/s00246-019-02246-5","article-title":"Left superior vena cava in the fetus: A rarely isolated anomaly","volume":"41","author":"Minsart","year":"2020","journal-title":"Pediatr. Cardiol."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1002\/pd.5029","article-title":"Right-sided aortic arch in the age of microarray","volume":"37","author":"Hutchinson","year":"2017","journal-title":"Prenat. Diagn."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1002\/pd.5015","article-title":"Fetal right aortic arch: Associated anomalies, genetic anomalies with chromosomal microarray analysis, and postnatal outcome","volume":"37","author":"Peng","year":"2017","journal-title":"Prenat. Diagn."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/s12947-019-0159-x","article-title":"Genetic anomalies in fetuses with tetralogy of Fallot by using high-definition chromosomal microarray analysis","volume":"17","author":"Peng","year":"2019","journal-title":"Cardiovasc. Ultrasound"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1002\/pd.2862","article-title":"Prenatal genetic diagnosis using microarray analysis in fetuses with congenital heart defects","volume":"32","author":"Schmid","year":"2012","journal-title":"Prenat. Diagn."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1002\/pd.4954","article-title":"Clinical aspects of prenatally detected congenital heart malformations and the yield of chromosomal microarray analysis","volume":"36","author":"Sukenik","year":"2016","journal-title":"Prenat. Diagn."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1159\/000431320","article-title":"Prenatal diagnosis of DNA copy number variations by genomic single-nucleotide polymorphism array in fetuses with congenital heart defects","volume":"39","author":"Tang","year":"2016","journal-title":"Fetal. Diagn. Ther."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.tjog.2018.11.003","article-title":"Phenotype to genotype characterization by array-comparative genomic hydridization (a-CGH) in case of fetal malformations: A systematic review","volume":"58","author":"Tonni","year":"2019","journal-title":"Taiwan J. Obstet. Gynecol."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"1206","DOI":"10.1038\/s41436-020-0791-8","article-title":"The prevalence of genetic diagnoses in fetuses with severe congenital heart defects","volume":"22","author":"Lugthart","year":"2020","journal-title":"Genet. Med."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1002\/pd.5388","article-title":"Prenatal diagnosis and clinical implications of an apparently isolated right aortic arch","volume":"38","author":"Vigneswaran","year":"2018","journal-title":"Prenat. Diagn."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1002\/pd.5249","article-title":"Clinical application of chromosomal microarray analysis for the Prenatal diagnosis of chromosomal abnormalities and copy number variations in fetuses with congenital heart disease","volume":"38","author":"Xia","year":"2018","journal-title":"Prenat. Diagn."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"e2503","DOI":"10.1097\/MD.0000000000002503","article-title":"A retrospective study on the significance of liver biopsy and hepatitis B surface antigen in chronic hepatitis B infection","volume":"95","author":"Zeng","year":"2016","journal-title":"Medicine"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"1991","DOI":"10.2147\/IJGM.S311800","article-title":"Effectiveness of Chromosomal Microarray Analysis for Prenatal diagnosis of Fetal Echogenic Intracardiac Focus: A Single-Center Experience","volume":"14","author":"Huang","year":"2021","journal-title":"Int. J. Gen. Med."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"31","DOI":"10.3389\/fgene.2017.00031","article-title":"The LIN28\/let-7 pathway in cancer","volume":"8","author":"Balzeau","year":"2017","journal-title":"Front. Genet."},{"key":"ref_78","first-page":"25","article-title":"Prenatal diagnosis and clinical outcomes of 297 fetuses with conotruncal defects","volume":"57","author":"Cao","year":"2022","journal-title":"Zhonghua Fu Chan Ke Za Zhi"},{"key":"ref_79","first-page":"660","article-title":"Prenatal diagnosis and pregnancy outcomes of sixty-three fetuses with tetralogy of Fallot","volume":"54","author":"Ren","year":"2019","journal-title":"Zhonghua Fu Chan Ke Za Zhi"},{"key":"ref_80","first-page":"347","article-title":"Analysis of genomic copy number variations in fetuses with conotruncal defects using single nucleotide polymorphism array","volume":"35","author":"Wang","year":"2018","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chin. J. Med. Genet."},{"key":"ref_81","first-page":"524","article-title":"Analysis of genomic copy number variations in 36 fetuses with heart malformations using next-generation sequencing","volume":"34","author":"Gao","year":"2017","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chin. J. Med. Genet."},{"key":"ref_82","first-page":"1","article-title":"Combined G-banded karyotyping and multiplex ligation-dependent probe amplification for the detection of chromosomal abnormalities in fetuses with congenital heart defects","volume":"34","author":"Liu","year":"2017","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chin. J. Med. Genet."},{"key":"ref_83","first-page":"893","article-title":"Clinical value of genome-wide high resolution chromosomal microarray analysis in etiological study of fetuses with congenital heart defects","volume":"49","author":"Wu","year":"2014","journal-title":"Zhonghua Fu Chan Ke Za Zhi"},{"key":"ref_84","first-page":"254","article-title":"DiGeorge syndrome, a review of 52 patients","volume":"12","author":"Minier","year":"2005","journal-title":"Arch. Pediatr. Organe Off. Soc. Francaise Pediatr."},{"key":"ref_85","doi-asserted-by":"crossref","unstructured":"Salzer-Sheelo, L., Polak, U., Barg, A., Kahana, S., Yacobson, S., Agmon-Fishman, I., Klein, C., Matar, R., Rurman-Shahar, N., and Sagi-Dain, L. (2022). Prenatal and postnatal chromosomal microarray analysis in 885 cases of various congenital heart defects. Arch. Gynecol. Obstet., 1\u20137.","DOI":"10.1007\/s00404-021-06366-3"},{"key":"ref_86","doi-asserted-by":"crossref","unstructured":"Topbas Selcuki, N.F., Senol, G., Esin, D., Ozkose, Z.G., Caypinar, S.S., Bornaun, H., Cetin, B.A., and Yuksel, M.A. (2022). Prenatal diagnosis and postnatal outcomes of right aortic arch anomalies. Arch. Gynecol. Obstet., 1\u20138.","DOI":"10.1007\/s00404-021-06346-7"},{"key":"ref_87","doi-asserted-by":"crossref","unstructured":"Hao, X.-Y., Zhang, Y., Zhao, Y., Liu, X., Gu, X., Han, J.-C., and He, Y.-H. (2021). Prenatal diagnosis of isolation of aortic brachiocephalic artery. Acta Radiol., 2841851211058278.","DOI":"10.1177\/02841851211058278"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1159\/000512605","article-title":"Analysis of Copy Number Variations by Low-Depth Whole-Genome Sequencing in Fetuses with Congenital Cardiovascular Malformations","volume":"160","author":"Huang","year":"2020","journal-title":"Cytogenet. Genome Res."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1007\/s00404-017-4518-2","article-title":"Clinical application of SNP array analysis in fetuses with ventricular septal defects and normal karyotypes","volume":"296","author":"Fu","year":"2017","journal-title":"Arch. Gynecol. Obstet."},{"key":"ref_90","doi-asserted-by":"crossref","unstructured":"Gindes, L., Salem, Y., Gasnier, R., Raucher, A., Tamir, A., Assa, S., Weissman- Brenner, A., Weisz, B., Kasif, E., and Achiron, R. (2021). Prenatal diagnosis of major aortopulmonary collateral arteries (MAPCA) in fetuses with pulmonary atresia with ventricular septal defect and agenesis of ductus arteriosus. J. Matern.-Fetal Neonatal Med., 1\u20139. online ahead of print.","DOI":"10.1080\/14767058.2021.1881475"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1002\/pd.5449","article-title":"Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France","volume":"39","author":"Hureaux","year":"2019","journal-title":"Prenat. Diagn."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1016\/j.jogc.2016.02.010","article-title":"Prenatal array comparative genomic hybridization in fetuses with structural cardiac anomalies","volume":"38","author":"Lazier","year":"2016","journal-title":"J. Obstet. Gynaecol. Can."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"1480","DOI":"10.1080\/14767058.2018.1519800","article-title":"Clinical value of chromosomal microarray analysis in prenatally diagnosed dextro-transposition of the great arteries","volume":"33","author":"Lee","year":"2020","journal-title":"J. Matern.-Fetal Neonatal Med."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/s13023-021-02167-8","article-title":"Estimating the frequency of causal genetic variants in foetuses with congenital heart defects: A Chinese cohort study","volume":"17","author":"Lu","year":"2022","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1002\/uog.15935","article-title":"Chromosomal microarray analysis in fetuses with aberrant right subclavian artery","volume":"49","author":"Maya","year":"2017","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1111\/aogs.13708","article-title":"What have we learned from 691 prenatal chromosomal microarrays for ventricular septal defects?","volume":"99","author":"Maya","year":"2020","journal-title":"Acta Obstet. Gynecol. Scand."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"100078","DOI":"10.1016\/j.ajogmf.2019.100078","article-title":"Chromosomal microarray analysis in the investigation of prenatally diagnosed congenital heart disease","volume":"2","author":"Mustafa","year":"2020","journal-title":"Am. J. Obstet. Gynecol. MFM"},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1002\/uog.23532","article-title":"Comprehensive evaluation of genetic variants using chromosomal microarray analysis and exome sequencing in fetuses with congenital heart defect","volume":"58","author":"Qiao","year":"2021","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"333-e1","DOI":"10.1016\/j.ajog.2021.05.022","article-title":"The yield of chromosomal microarray in pregnancies with congenital cardiac defects and normal noninvasive prenatal screening","volume":"225","author":"Singer","year":"2021","journal-title":"Am. J. Obstet. Gynecol."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1002\/pd.3943","article-title":"Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound","volume":"32","author":"Shaffer","year":"2012","journal-title":"Prenat. Diagn."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"e22630","DOI":"10.1002\/jcla.22630","article-title":"Detection of copy number variants using chromosomal microarray analysis for the Prenatal diagnosis of congenital heart defects with normal karyotype","volume":"33","author":"Song","year":"2019","journal-title":"J. Clin. Lab. Anal."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"2837","DOI":"10.1080\/14767058.2018.1449829","article-title":"The genetic and clinical outcome of isolated fetal muscular ventricular septal defect (VSD)","volume":"32","author":"Svirsky","year":"2019","journal-title":"J. Matern.-Fetal Neonatal Med."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/j.ejogrb.2017.12.019","article-title":"Yield rate of chromosomal microarray analysis in fetuses with congenital heart defects","volume":"221","author":"Turan","year":"2018","journal-title":"Eur. J. Obstet. Gynecol."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"244.e17","DOI":"10.1016\/j.ajog.2017.10.225","article-title":"Prenatal chromosomal microarray analysis in fetuses with congenital heart disease: A prospective cohort study","volume":"218","author":"Wang","year":"2018","journal-title":"Am. J. Obstet. Gynecol."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1007\/s40291-020-00474-7","article-title":"Chromosomal microarray analysis for the fetuses with aortic arch abnormalities and normal karyotype","volume":"24","author":"Wu","year":"2020","journal-title":"Mol. Diagn. Ther."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1002\/pd.4782","article-title":"Identification of copy number variations associated with congenital heart disease by chromosomal microarray analysis and next-generation sequencing","volume":"36","author":"Zhu","year":"2016","journal-title":"Prenat. Diagn."},{"key":"ref_107","doi-asserted-by":"crossref","unstructured":"Piacentini, G., Mastromoro, G., Romano, V., Riccardi, R., and Orfeo, L. (2022). Fetal echocardiographic features of absent pulmonary valve syndrome. Am. J. Obstet. Gynecol., in press.","DOI":"10.1016\/j.ajog.2022.02.023"},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"346762","DOI":"10.1155\/2013\/346762","article-title":"Implementation of high resolution whole genome array CGH in the prenatal clinical setting: Advantages, challenges, and review of the literature","volume":"2013","author":"Evangelidou","year":"2013","journal-title":"BioMed Res. Int."},{"key":"ref_109","first-page":"281","article-title":"Prenatal genetic testing options","volume":"66","author":"Jelin","year":"2019","journal-title":"Pediatr. Clin."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.3892\/mmr.2012.1116","article-title":"Clinical implementation of chromosomal microarray technology in Prenatal diagnosis","volume":"6","author":"Kang","year":"2012","journal-title":"Mol. Med. Rep."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"249","DOI":"10.2217\/pme-2015-0003","article-title":"Chromosomal microarray in Prenatal diagnosis: Case studies and clinical challenges","volume":"13","author":"Leavitt","year":"2016","journal-title":"Per. Med."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1002\/uog.11180","article-title":"Microarray comparative genomic hybridization in Prenatal diagnosis: A review","volume":"40","author":"Hillman","year":"2012","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"2175","DOI":"10.1056\/NEJMoa1203382","article-title":"Chromosomal microarray versus karyotyping for Prenatal diagnosis","volume":"367","author":"Wapner","year":"2012","journal-title":"N. Engl. J. Med."},{"key":"ref_114","doi-asserted-by":"crossref","unstructured":"American College of Obstetricians (2013). Committee opinion no. 581: The use of chromosomal microarray analysis in Prenatal diagnosis. Obstet. Gynecol., 122, 1374\u20131377.","DOI":"10.1097\/00006250-201312000-00042"},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1002\/pd.2933","article-title":"Genomic microarrays: A technology overview","volume":"32","author":"Brady","year":"2012","journal-title":"Prenat. Diagn."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1093\/humupd\/dms023","article-title":"Chromosome microarrays in human reproduction","volume":"18","year":"2012","journal-title":"Hum. Reprod. Update"},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.fertnstert.2018.01.005","article-title":"Prenatal diagnosis by chromosomal microarray analysis","volume":"109","author":"Levy","year":"2018","journal-title":"Fertil. Steril."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1038\/gim.2012.113","article-title":"Women\u2019s experiences receiving abnormal prenatal chromosomal microarray testing results","volume":"15","author":"Bernhardt","year":"2013","journal-title":"Genet. Med."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1097\/00125817-200101000-00010","article-title":"Anatomic patterns of conotruncal defects associated with deletion 22q11","volume":"3","author":"Marino","year":"2001","journal-title":"Genet. Med."},{"key":"ref_120","doi-asserted-by":"crossref","unstructured":"Guadagnolo, D., Mastromoro, G., Di Palma, F., Pizzuti, A., and Marchionni, E. (2021). Prenatal exome sequencing: Background, current practice and future perspectives\u2014A systematic review. Diagnostics, 11.","DOI":"10.3390\/diagnostics11020224"},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1016\/S0140-6736(18)31940-8","article-title":"Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): A cohort study","volume":"393","author":"Lord","year":"2019","journal-title":"Lancet"},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1016\/S0140-6736(18)32042-7","article-title":"Whole-exome sequencing in the evaluation of fetal structural anomalies: A prospective cohort study","volume":"393","author":"Petrovski","year":"2019","journal-title":"Lancet"},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1111\/cge.13774","article-title":"Prenatal exome sequencing in fetuses with congenital heart defects","volume":"98","author":"Li","year":"2020","journal-title":"Clin. Genet."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1002\/uog.22072","article-title":"COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: Prospective cohort study and systematic review","volume":"57","author":"Mone","year":"2021","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.3174\/ajnr.A5628","article-title":"Volumetric brain MRI study in fetuses with congenital heart disease","volume":"39","author":"Olshaker","year":"2018","journal-title":"Am. J. Neuroradiol."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1159\/000439527","article-title":"Severity of fetal brain abnormalities in congenital heart disease in relation to the main expected pattern of in utero brain blood supply","volume":"39","author":"Masoller","year":"2016","journal-title":"Fetal. Diagn. Ther."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1161\/CIRCULATIONAHA.121.056305","article-title":"Fetal brain volume predicts neurodevelopment in congenital heart disease","volume":"145","author":"Sadhwani","year":"2022","journal-title":"Circulation"},{"key":"ref_128","doi-asserted-by":"crossref","unstructured":"Dovjak, G.O., Hausmaninger, G., Zalewski, T., Schmidbauer, V., Weber, M., Worda, C., Seidl-Mlczoch, E., Berger-Kulemann, V., Prayer, D., and Kasprian, G.J. (2022). Brainstem and cerebellar volumes at magnetic resonance imaging are smaller in fetuses with congenital heart disease. Am. J. Obstet. Gynecol., in press.","DOI":"10.1016\/j.ajog.2022.03.030"}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/12\/6\/1328\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T23:19:51Z","timestamp":1760138391000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/12\/6\/1328"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,27]]},"references-count":128,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2022,6]]}},"alternative-id":["diagnostics12061328"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics12061328","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,27]]}}}