AFJOG

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 Secondary outcomes were to assess certain characteristics of the cohort, which included the: • Frequency of acceptance of amniocentesis • The prevalence of genetic abnormalities in the cohort • Associated fetal abnormalities and their frequency. • The number of patients choosing to undergo termination of pregnancy (TOP). • The associated prognostic factors which may contribute to the decision to TOP • The impact on survival of a chromosomal or other associated anomaly. • Assessment of the accuracy of the ultrasound diagnosis of AVSD compared to the postnatal diagnosis • Morbidity in the first year of life using the duration of hospital stay and the number of surgical procedures the infant underwent. METHODS Patients and site The study was a retrospective cohort study conducted at Groote Schuur Hospital (GSH), a tertiary hospital servicing the Cape Town Metro West district of the Western Cape. All patients with abnormal fetal sonographic findings detected at primary and secondary level units in the district are referred for review at the GSH Fetal Medicine Unit (FMU). All fetuses with a detected AVSD are presented to a multidisciplinary team consisting of maternal and fetal medicine sub-specialists, clinical geneticists, neonatologists and where possible, paediatric cardiologists. Inclusion Criteria All cases of fetal AVSD diagnosed within a seven-year period (between 1 January 2010 and 31 December 2016) at the FMU at GSH. Exclusion Criteria • All cases of AVSD diagnosed outside the GSH FMU • Cases where the AVSD was diagnosed postnatally. • Cases where the initial diagnosis of an AVSD was made but was amended antenatally after review with the fetal medicine team or with the paediatric cardiologists. METHODOLOGY Antenatal ultrasound reports were obtained from the Astraia ® system in the GSH FMU ultrasound department. This database tracks all obstetric and gynaecology ultrasound scans performed in the unit dating back to 2010. Patients are informed that their data will be entered into this database and their consent obtained at the time of the scans being performed. Ultrasound data captured included the date of diagnosis, gestational age at diagnosis, descriptors of AVSD lesions, associated abnormalities, details of invasive tests performed, termination of pregnancy (TOP) counselling and the documentation of antenatal and fetal complications. Data were also obtained from the maternity case records. This included maternal demographic data, chronic diseases, results of invasive genetic testing, obstetric complications, TOP or delivery details and fetal postmortem findings (if performed). Linked paediatric files at bothGSHandRedCross Children’s Hospital (RCCH) were sourced for additional outcome data. The neonatal and infant outcomes were followed up until demise or one year of life. Other neonatal and paediatric details included surgical procedures performed, number of days in ICU, duration of general admission in the neonatal period and infancy, results of genotype and postmortem results (if performed). In the case of missing folders, the Astraia database as well as the RCCH paediatric cardiology database were used to complete the data collection. Mothers who were subsequently lost to follow up, had missing folders, or whose neonatal/infant folder could not be identified were included in the study. Their case data was included as far as documented. Only one case was completely lost to follow up in infancy. Amniocentesis results not recorded in the files were traced on the National health laboratory services (NHLS) online databases. Statistical analysis Descriptive statistics were used to detail the cohort; associations were analysed with the Fisher’s exact, two sample t-test and the Chi-squared test where indicated. Kaplan-Meier survival estimates were utilised to graphically display survival curves for the cohort. Ethics Ethics approval was obtained from the University of Cape Town Human Research Ethics Committee (HREC Ref: 730/2017). All patients are informed that their data will be entered into the Astraia database and their consent is obtained at the time of the scans being performed. RESULTS A total of 58 cases of AVSD were diagnosed in the study period. Three were excluded as the diagnosis was revised antenatally to hypoplastic left heart syndrome, Tetralogy of Fallot and a ventricular septal defect (only) respectively. The residual cohort was 55. The most common referral reason was an abnormality found at a secondary level anomaly scan (63,6%); and the average gestational age at diagnosis was 23 weeks. The average age of the women in the study was 31,6 ± 7,5 years. They had an average BMI of 27,3 ± 6,4 and 14,4% were smokers. Twelve women (21,8%) had either pre-existing or gestational diabetes. Only two (3,6%) had had a fetal anomaly in a previous pregnancy. In two cases, there was a family history of congenital abnormality (musculoskeletal defect and a congenital cardiac anomaly). Periconceptional use of Roaccutane was identified in 2 cases; other possible teratogens identified included: methamphetamines (n=1), enalapril (n=1) and an unspecified anti-epileptic (n=1).