A review of antenatally-diagnosed congenital heart disease in a Western Cape tertiary facility: outcomes and diagnostic discrepancy

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dc.contributor.advisorZuhlke, Liesl
dc.contributor.advisorOsman, Ayesha
dc.contributor.advisorAldersley, Thomas
dc.contributor.authorSmith, Damian
dc.date.accessioned2025-09-30T11:08:53Z
dc.date.available2025-09-30T11:08:53Z
dc.date.issued2025
dc.date.updated2025-09-30T11:03:30Z
dc.description.abstractObjective: To describe the cases of fetal congenital heart disease (CHD), the diagnostic discrepancy (DD) between pre- and postnatal echocardiography (echo) and their outcomes in a state tertiary facility in the Western Cape. Study design: A retrospective descriptive study was conducted on 106 cases of structural CHD diagnosed at the Groote Schuur Hospital (GSH) Maternal Fetal Medicine Unit (MFMU) between January 2018 and December 2019. Primary measurements included maternal obstetric data, fetal diagnosis, extracardiac and genetic abnormalities, pregnancy outcome, postnatal Echo results, intervention and outcomes (catheterisation, surgery). Results: At first presentation to the MFMU, median maternal age was 32 years (Interquartile range (IQR: 26 – 38 years), with a median gestation of 21 completed weeks (IQR: 19 – 25 weeks) and a mean BMI of 28.1 (± 6.8). Amniocentesis was performed in 43/106 cases (40.6%), with a positive genetic abnormality in 23/43(53.5%), highest in the IUFD group (75.0%). Of the cases diagnosed, 21/106 were terminated (n=19.6%), intrauterine fetal death (IUFD) occurred in 21/106 cases (n=19.6%) with 62 live births (n=58.5%). In 2/106 cases there was no record of delivery (n=1.9%). DD rate was 16/47 (n=34.0%). Atrioventricular septal defect was both the commonest prenatal CHD diagnosis and most associated with DD. Conclusions: The DD rate of AVSD seen in the study carries important management implications both during pregnancy and in the immediate post-natal period, highlighting the critical importance of accurate fetal diagnosis. Increasing prenatal screening capacity, regular audit, and prenatal collaboration with paediatric cardiology may improve diagnostic accuracy.
dc.identifier.apacitationSmith, D. (2025). <i>A review of antenatally-diagnosed congenital heart disease in a Western Cape tertiary facility: outcomes and diagnostic discrepancy</i>. (). University of Cape Town ,Faculty of Health Sciences ,Department of Paediatrics and Child Health. Retrieved from http://hdl.handle.net/11427/41918en_ZA
dc.identifier.chicagocitationSmith, Damian. <i>"A review of antenatally-diagnosed congenital heart disease in a Western Cape tertiary facility: outcomes and diagnostic discrepancy."</i> ., University of Cape Town ,Faculty of Health Sciences ,Department of Paediatrics and Child Health, 2025. http://hdl.handle.net/11427/41918en_ZA
dc.identifier.citationSmith, D. 2025. A review of antenatally-diagnosed congenital heart disease in a Western Cape tertiary facility: outcomes and diagnostic discrepancy. . University of Cape Town ,Faculty of Health Sciences ,Department of Paediatrics and Child Health. http://hdl.handle.net/11427/41918en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Smith, Damian AB - Objective: To describe the cases of fetal congenital heart disease (CHD), the diagnostic discrepancy (DD) between pre- and postnatal echocardiography (echo) and their outcomes in a state tertiary facility in the Western Cape. Study design: A retrospective descriptive study was conducted on 106 cases of structural CHD diagnosed at the Groote Schuur Hospital (GSH) Maternal Fetal Medicine Unit (MFMU) between January 2018 and December 2019. Primary measurements included maternal obstetric data, fetal diagnosis, extracardiac and genetic abnormalities, pregnancy outcome, postnatal Echo results, intervention and outcomes (catheterisation, surgery). Results: At first presentation to the MFMU, median maternal age was 32 years (Interquartile range (IQR: 26 – 38 years), with a median gestation of 21 completed weeks (IQR: 19 – 25 weeks) and a mean BMI of 28.1 (± 6.8). Amniocentesis was performed in 43/106 cases (40.6%), with a positive genetic abnormality in 23/43(53.5%), highest in the IUFD group (75.0%). Of the cases diagnosed, 21/106 were terminated (n=19.6%), intrauterine fetal death (IUFD) occurred in 21/106 cases (n=19.6%) with 62 live births (n=58.5%). In 2/106 cases there was no record of delivery (n=1.9%). DD rate was 16/47 (n=34.0%). Atrioventricular septal defect was both the commonest prenatal CHD diagnosis and most associated with DD. Conclusions: The DD rate of AVSD seen in the study carries important management implications both during pregnancy and in the immediate post-natal period, highlighting the critical importance of accurate fetal diagnosis. Increasing prenatal screening capacity, regular audit, and prenatal collaboration with paediatric cardiology may improve diagnostic accuracy. DA - 2025 DB - OpenUCT DP - University of Cape Town KW - Congenital heart disease KW - Fetal echocardiography KW - Diagnostic discrepancy LK - https://open.uct.ac.za PB - University of Cape Town PY - 2025 T1 - A review of antenatally-diagnosed congenital heart disease in a Western Cape tertiary facility: outcomes and diagnostic discrepancy TI - A review of antenatally-diagnosed congenital heart disease in a Western Cape tertiary facility: outcomes and diagnostic discrepancy UR - http://hdl.handle.net/11427/41918 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/41918
dc.identifier.vancouvercitationSmith D. A review of antenatally-diagnosed congenital heart disease in a Western Cape tertiary facility: outcomes and diagnostic discrepancy. []. University of Cape Town ,Faculty of Health Sciences ,Department of Paediatrics and Child Health, 2025 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/41918en_ZA
dc.language.isoen
dc.language.rfc3066eng
dc.publisher.departmentDepartment of Paediatrics and Child Health
dc.publisher.facultyFaculty of Health Sciences
dc.publisher.institutionUniversity of Cape Town
dc.subjectCongenital heart disease
dc.subjectFetal echocardiography
dc.subjectDiagnostic discrepancy
dc.titleA review of antenatally-diagnosed congenital heart disease in a Western Cape tertiary facility: outcomes and diagnostic discrepancy
dc.typeThesis / Dissertation
dc.type.qualificationlevelMasters
dc.type.qualificationlevelMMed
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