Spectrum of congenital anomalies detected through anatomy ultrasound at a referral hospital in Ghana

Background: Africa has a high burden of congenital anomalies due in part to limited preconception care, infections, and environmental exposures. However, the true prevalence of congenital anomalies is unclear because of insufficient access to prenatal diagnostic services. We aimed to determine the rate of congenital anomalies, and characterize the anomalies detected prenatally at a referral hospital in Ghana. Methods: We performed a four-year retrospective review of all fetal anomaly ultrasounds performed and congenital anomalies detected from January 1st, 2020, to December 31st, 2023, at Korle Bu Teaching Hospital, Accra, Ghana. Data were extracted from the electronic database on maternal age, gestational age at time of ultrasound, and occupation. Detected congenital anomalies were identified, and each anomaly was categorized by ICD-10 code and EUROCAT classification. Descriptive statistics were performed. Results: The mean maternal age and median gestational age at the time of ultrasound were 31.1 (SD 6.3) years and 26.9 (IQR 22.5–31.0) weeks, respectively. 3,981 anatomy ultrasounds were performed during the study period, and 7.0% (280/3,981) of fetuses had anomalies. Most (70.7%, 198/280) had anomalies detected in an isolated organ system. Anomalies were most identified in the central nervous system (CNS) (45.0%, 126/280), genitourinary (GU) (28.6%, 80/280), and gastrointestinal (GI) systems (21.8%, 61/280). The most common CNS anomaly identified was ventriculomegaly (70.6%, 89/126), out of which 26.2% (33/126) had severe ventriculomegaly, with an overall detection rate of 0.8% (33/3,981). The most common GU anomalies were congenital hydronephrosis (70.0%, 56/80), and congenital posterior urethral valves (28.8%, 23/80). The most common GI anomalies were exomphalos (49.2%, 30/61), and duodenal atresia (23.0%, 14/61). Unrelated to a specific organ system, 3.2% (9/280) of cases had hydrops and 6.1% (17/280) had an associated soft marker of aneuploidy. Conclusions: Our study highlights the substantial burden of congenital anomalies detected through prenatal ultrasound at a tertiary referral center in Ghana, with a notably high detection rate of severe ventriculomegaly. This work underscores the feasibility and importance of performing detailed anatomy ultrasounds in Africa. Beyond the clinical benefit, these data lay the groundwork for studies to identify the underlying causes of high rates of anomalies to inform preventive policy and clinical interventions in low-resource settings.