A retrospective review of the prenatal genetic counseling services in state healthcare hospitals of Johannesburg, South Africa

Abstract

Congenital disorders (CDs) contribute significantly to the global burden of disease, particularly in low and middle-income countries. In South Africa, CDs are the fourth leading cause of early neonatal death. While CDs with genetic origins cannot be prevented, earlier identification through prenatal screening and diagnosis offers an effective means of intervention and care. Genetic counseling is vital in prenatal care, assisting in patient education and information giving regarding screening and diagnostic outcomes, prognosis, and options going forward. However, there is still limited data detailing these services in the South African context. This study aimed to evaluate the prenatal genetic services provided by genetic counsellors at several state hospitals in Johannesburg over a two-and-a-half-year period. A total of 525 files belonging to patients who were referred for prenatal genetic counseling from July 2019 to December 2021 were reviewed. The mean age (standard deviation) was 35 ± 8 years and 59.2% (311/525) of the cohort was of advanced maternal age (AMA). The Black population group accounted for 89.7% of the patients seen, of which the most spoken home languages were isiZulu, Sepedi, and Sesotho. The primary reasons for referral were AMA and abnormal ultrasound findings. The uptake of prenatal invasive testing was 39.8% (141/354) and patients were more likely to undergo testing when referred for ultrasound findings (p < 0.001). Several reasons were reported for declining testing, with the majority (41.1%; 74/180) indicating concerns about the risk of miscarriage. Twenty-seven confirmed genetic diagnoses were made via genetic testing, namely 26 cases of chromosomal aneuploidy and one single gene condition. Lastly, patients were more likely to terminate a pregnancy with a confirmed genetic diagnosis (p < 0.001). These findings provide an overview of the prenatal genetic counseling services in these settings and offers insights into the decision-making patterns of patients in the Johannesburg state healthcare landscape.