AFJOG

African Journal of Obstetrics and Gynaecology | Volume 2 | Issue 2 | 2024 | 18 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 Figure 2 Among the 12 diabetic patients, four had heterotaxy syndrome, four had additional associated cardiac abnormalities, three had associated musculoskeletal abnormalities and five had isolated AVSDs (some had a combination of two or more additional anomalies). Associated genetic abnormalities (Table 2) The karyotype of affected fetuses was detected on either amniocentesis or postnatal genotyping from peripheral blood. Amniocentesis was offered in 96,4% of cases. In two cases amniocentesis was not offered; reasons were advanced gestational age at presentation (37 weeks) and absent or reversed end-diastolic flow at 28-week presentation. In those who were offered amniocentesis, the acceptance rate of amniocentesis was 28 (52,8%). The procedure was declined by 20 (37,7%) women. In five patients (9,4%) the decision regarding amniocentesis was unknown as it was not documented. In these cases, patients delivered without an amniocentesis being performed. The average maternal age of those declining amniocentesis compared to those who accepted the procedure was 29,2 ± 6,3 vs 32,1 ± 8,5 years. As a further 11 women underwent genetic testing postnatally, the genotype was known in 39 (70,9%) of the cohort. An abnormal genetic result was identified in 46% of those tested. Table 2. Temporal Changes in Fistula Repair Outcomes from 2012 to 2022 Result Frequency Percentage Not Done 16 29,09% Normal 15 27,27% Trisomy 21 12 21,82% Trisomy 13 1 1,82% Trisomy 18 5 9,09% Other* 3 5,45% Culture Failure 3 5,45% *Other included: 4q deletion, 6 supraband, derivative 4. Amongst the diabetic group, 58,3% did not undergo chromosomal testing. Of those tested 27,8% had a normal result and 16,7% detected trisomy 21. Uptake of termination of pregnancy (TOP) Termination of pregnancy was offered in 39 (70,9%) cases. Of these, 18 (46,2%) declined and 21 (53,9%) accepted the procedure. Of those who accepted TOP, the procedure was successfully performed in 18 (85,7%). There were three cases where TOP was unsuccessful: two where patients declined further treatment prior to the procedure being completed and a third where the fetus demised prior to the commencement of the TOP. This resulted in a total number of TOPs of 18 (32,7%). The average maternal age of those mothers accepting TOP was similar to those who declined TOP. The average gestational age at diagnosis in the group who underwent a TOP was similar to those who did not have a TOP. Overall, the frequency of TOP in the group with an isolated AVSD was 27,8% and 40,5% in the group with one or more additional anomaly. TOP uptake was highest in the group of patients where fetuses had associated pulmonary abnormalities (100%, p=0,172), associated GIT abnormalities (85,7%, p=0,049), and associated MSK abnormalities (69,2%, p=0,122). In cases with the diagnosis of Trisomy 21, 37.5%underwent TOP, while 100% of patients with trisomy 13 and 80% of those with trisomy 18 underwent TOP. Overall, those with an abnormal karyotype had a TOP rate of 62,50% (p= 0,325) compared to the 44,4% rate of TOP in those with a normal karyotype. Miscarriage and intra-uterine fetal demise (IUFD) Termination There were a total of 11 cases of spontaneous miscarriage and IUFD (20,0%). A miscarriage or IUFD occurred in 24,32% of those with one or more associated abnormality compared to 11,1% in cases of an isolated AVSD. This difference was not statistically significant. (p=0,219). Where a karyotype result was available, 9,5% of those with abnormal karyotype suffered a fetal loss compared to 20,0% of those with a normal karyotype, This difference was not statistically significant. (p=0,337) Neonatal Period Twenty-six (47,3%) of the affected fetuses were born alive. Of babies born with an isolated AVSD, 15,4% demised in the neonatal period compared to 30,8% of those with one or more associated anomaly. This difference was not statistically significant (p=0,322). There was also no statistically significant association between neonatal death and having an abnormal karyotype (p=0,630). Neonatal resuscitation was required in 48,2% of cases. Of those needing resuscitation, 61,5% had one or more additional anomaly (p=0,28). The average ICU stay was 2,8 days, and the average total number of admission days in the neonatal period 10,1 days. The average duration of stay was slightly longer in cases with an abnormal chromosomal diagnosis (12,7 days) and cases where an amniocentesis was not performed antenatally (12,5 days). Of those who had live births, the rate of early neonatal death (ENND) was 15,4%. The causes of early neonatal death were either cardiac or respiratory failure. Two patients (7.7%) had late neonatal deaths (LNND) and the causes were documented as sepsis or respiratory failure. The average weight of those born alive was 2616g, while the average birth weight of those who were born alive and then demised was 2201g. Neonatal Period The average number of admission days in infancy was 41,47. Of the 26 born alive, 11 survived infancy and were alive at one year of life (42,3%). This amounts to 20% of the original cohort, or 29,7% of those who did not have a TOP.