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A review of antenatally-diagnosed congenital heart disease in a Western Cape tertiary facility: outcomes and diagnostic discrepancy
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...
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| Format: | Thesis |
| Language: | English English |
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Department of Paediatrics and Child Health
2025
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| _version_ | 1867613354661511168 |
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| access_status_str | Open Access |
| author | Smith, Damian |
| author2 | Zuhlke, Liesl |
| author_browse | Smith, Damian Zuhlke, Liesl |
| author_facet | Zuhlke, Liesl Smith, Damian |
| author_sort | Smith, Damian |
| collection | Thesis |
| description | 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. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/41918 |
| institution | University of Cape Town (South Africa) |
| language | English eng |
| last_indexed | 2026-06-10T12:34:49.318Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2025 |
| publishDateRange | 2025 |
| publishDateSort | 2025 |
| publisher | Department of Paediatrics and Child Health |
| publisherStr | Department of Paediatrics and Child Health |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/41918 A review of antenatally-diagnosed congenital heart disease in a Western Cape tertiary facility: outcomes and diagnostic discrepancy Smith, Damian Zuhlke, Liesl Osman, Ayesha Aldersley, Thomas Congenital heart disease Fetal echocardiography Diagnostic discrepancy 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. 2025-09-30T11:08:53Z 2025-09-30T11:08:53Z 2025 2025-09-30T11:03:30Z Thesis / Dissertation Masters MMed http://hdl.handle.net/11427/41918 en eng application/pdf Department of Paediatrics and Child Health Faculty of Health Sciences University of Cape Town |
| spellingShingle | Congenital heart disease Fetal echocardiography Diagnostic discrepancy Smith, Damian A review of antenatally-diagnosed congenital heart disease in a Western Cape tertiary facility: outcomes and diagnostic discrepancy |
| thesis_degree_str | Master's |
| title | A review of antenatally-diagnosed congenital heart disease in a Western Cape tertiary facility: outcomes and diagnostic discrepancy |
| title_full | A review of antenatally-diagnosed congenital heart disease in a Western Cape tertiary facility: outcomes and diagnostic discrepancy |
| title_fullStr | A review of antenatally-diagnosed congenital heart disease in a Western Cape tertiary facility: outcomes and diagnostic discrepancy |
| title_full_unstemmed | A review of antenatally-diagnosed congenital heart disease in a Western Cape tertiary facility: outcomes and diagnostic discrepancy |
| title_short | A review of antenatally-diagnosed congenital heart disease in a Western Cape tertiary facility: outcomes and diagnostic discrepancy |
| title_sort | review of antenatally diagnosed congenital heart disease in a western cape tertiary facility outcomes and diagnostic discrepancy |
| topic | Congenital heart disease Fetal echocardiography Diagnostic discrepancy |
| url | http://hdl.handle.net/11427/41918 |
| work_keys_str_mv | AT smithdamian areviewofantenatallydiagnosedcongenitalheartdiseaseinawesterncapetertiaryfacilityoutcomesanddiagnosticdiscrepancy AT smithdamian reviewofantenatallydiagnosedcongenitalheartdiseaseinawesterncapetertiaryfacilityoutcomesanddiagnosticdiscrepancy |