AFJOG

African Journal of Obstetrics and Gynaecology | Volume 2 | Issue 2 | 2024 | 15 ORIGINAL RESEARCH African Journal of Obstetrics and Gynaecology | Volume 2 | Issue 2 | 2024 | Antenatally diagnosed atrioventricular septal defects: a descriptive cohort study of outcomes and associated factors related to survival ABSTRACT Introduction: Atrioventricular septal defects (AVSDs) constitute 5–8% of congenital cardiac defects in the developed world and have a high neonatal morbidity and mortality. There is a paucity of data pertaining to both the prevalence and outcomes of babies born with AVSDs in Africa. We thus aimed to assess the outcomes of patients antenatally diagnosed with an AVSD. Methods: This was a retrospective cohort study including all patients antenatally diagnosed with an AVSD at the Fetal Medicine Unit at Groote Schuur Hospital from 1 January 2010 to 31 December 2016. Data were obtained from the Astraia database and from review of maternal and neonatal folders. Results: Fifty-eight cases of AVSD were diagnosed in the study period. Three were excluded because the diagnosis was revised antenatally. Eighteen (32.7%) cases were isolated and the remainder had at least one associated abnormality. Amniocentesis was offered in 96.4% of cases with an acceptance rate of 52.8%. A further 11 women underwent genetic testing postnatally.Abnormal karyoptype was identified in 46% of those tested, the commonest being trisomy 21 (21.2%). Of the cohort, 18 patients (32.7%) underwent termination of pregnancy. Twenty-six (47,3%) fetuses were born alive. Neonatal death occurred in 15.4% of those with an isolated AVSD and 30,8% with one or more associated anomaly (p=0,322). Of the 26 born alive, 11 were alive at one year of life (42,3%). Twelve (46%) had corrective cardiac surgery in the first year of life. Conclusion: This study contributes to the literature on antenatally diagnosed AVSDs in Africa and will allow for a more detailed informed counselling session and individualized management for patients with a diagnosis of fetal AVSD. BACKGROUND Atrioventricular septal defects (AVSDs) constitute 5–8% of congenital cardiac abnormalities diagnosed antenatally in the developed world. [1] This fetal anomaly contributes substantially to the fetal and neonatal morbidity and mortality of congenital heart disease worldwide. There is a paucity of data pertaining to both the prevalence and the outcomes of babies born with an AVSD in South Africa, as well as the rest of Africa. [2] Local and continental knowledge of South African and African neonatal and infant outcomes is essential if we are to appropriately counsel parents who have received a diagnosis of a fetal AVSD. The aim of this study was to assess the outcomes of fetuses diagnosed with an AVSD at the Fetal Medicine Unit (FMU) at Groote Schuur Hospital (GSH) over a seven-year period, using a retrospective cohort study design. Cases were assessed from the time of antenatal diagnosis until the point of demise (fetal, neonatal or infant death) or up until one year of life. The impact of genetic and structural abnormalities on the survival rate of the affected fetuses was also assessed. An AVSD is caused by inadequate endocardial cushion and cardiac septal development. The lesion can be diagnosed as early as 12 weeks’ gestation on an antenatal ultrasound, but is commonly diagnosed after 20 weeks’ gestation. [3] AVSD can also be associated with genetic and/or other structural abnormalities. Associated genetic abnormalities include trisomy 21 (this is the most common), trisomy 18, trisomy 13 and triploidy. Isolated, non-syndromic AVSDs occur in 37–58% of cases and are assessed as having a normal genotype and no other syndromic features. [4-5] The severity of the defect depends on whether the AVSD is complete or incomplete, the degree of atrioventricular valve regurgitation that develops and if there are additional cardiac anomalies. These many contributing factors affect prognosis, which is further influenced by the possibility of additional fetal anomalies in other organ systems. [4-8] Antenatal ultrasound can be used to diagnose an AVSD, along with associated cardiac and non-cardiac abnormalities. Based on sonographic findings, patients are offered invasive testing to identify possible genetic abnormalities. [9-13] Parental counselling includes all aspects of the sonographic findings as well as the genetic test results and attempts to correctly assess prognosis. Termination of pregnancy may be offered in specific cases. Antenatal diagnosis enables appropriate planning of neonatal management and appropriate referral to neonatologists and paediatric cardiologists to optimise the neonatal and infant outcomes. Surgery is offered in infancy (around 3 months) if the defect is complete, or is associated with moderate to severe mitral regurgitation, in order to prevent the development of pulmonary hypertension. [3] The documentation and quantification of survival rates in a local setting facilitates the appropriate counselling of parents with fetuses diagnosed antenatally with an AVSD in South Africa. AIMS: The primary aims of the study were 1) to quantify the fetal, perinatal and infant survival rates of fetuses diagnosed antenatally with an AVSD between 1 January 2010 and 31 December 2016, and 2) to assess the impact of genetic abnormalities and/or additional structural fetal abnormalities on the survival rate. C Annor 1 , A Osman 1 , CJM Stewart 1 1 Fetal Medicine Unit, Department of Obstetrics & Gynaecology, Groote Schuur Hospital and University of Cape Town CORRESPONDENCE: C Annor| Email: Char.annor@gmail.com Antenatally diagnosed atrioventricular septal defects: a descriptive cohort study of outcomes and associated factors related to survival