Proportion of Chromosomal Disorders and Their Patterns among Births with Congenital Anomalies in Africa: A Systematic Review and Meta-Analyses

Abstract

Introduction. Worldwide, surveys have shown that the frequency of chromosomal disorders among births with congenital anomalies varies greatly from country to country. It is well known that chromosomal disorders are an important cause of premature death or life-long disability; however, the absence of local epidemiological data on their birth prevalence and outcomes impedes policy and service development in many countries and continents. Therefore, the current systematic review and meta-analysis intend to show the pooled proportion of chromosomal disorders among births with congenital anomalies in Africa. Methods. From PubMed, Cochrane Library, and Google Scholar, we systematically reviewed and meta-analyzed the studies that examined the incidence, prevalence, and types of chromosomal disorders using PRISMA guidelines. A weighted inverse variance random-effects model was used to estimate the pooled proportion of chromosomal disorders among births with congenital anomalies. Results. From the total of 3,569 studies identified, 1,442 were from PubMed, 108 were from Cochrane Library, 1,830 were from Google Scholar, and 189 were from other sources. After duplication was removed, a total of 844 articles remained (2725 were removed by duplication). Finally, 144 full-text studies were reviewed and 60 articles with 52,569 births having congenital anomalies met the inclusion criteria and were selected for this meta-analysis. The pooled proportion of chromosomal disorders among births with congenital anomalies was 8.94% (95% CI; 7.02, 10.86; I2 = 98.8%; p < 0.001 ). Conclusions and Future Implications. In the current systematic review and meta-analysis, the pooled proportion of chromosomal disorders among births with congenital anomalies in Africa was small. Down syndrome (trisomy 21) accounted for more than 80% of chromosomal disorders. The pooled proportion of chromosome disorders was the highest in North African regions and countries compared to other regions of the continent. Healthcare managers should focus on establishing proper cytogenetic diagnostic facilities in collaboration with well-trained genetic counseling services in the continent.

Appropriate Means to Vulgarize the Human Cytogenetics

“…In low-and middle-income countries such as Africa, chromosomal abnormalities are likely to be underestimated due to the lack of accurate data on the causes of death [4]. Chromosomal disorders form a major category of genetic diseases [12].…”

“…Chromosomal disorders form a major category of genetic diseases [12]. They have a huge impact on overall health and well-being, causing multiple problems including mental retardation and/or physical disabilities [4].…”

“…It is well known that chromosomal disorders are a significant cause of premature death or often lifelong disability [4] [5] [6] [7].…”

“…Therefore, the results of literature review conducted in 2022 in Africa found that the proportion of chromosomal disorders among births with congenital anomalies was 8.94% (p < 0.001) [4]. Nevertheless, observations mention an underestimation of epidemiological data in underdeveloped countries mainly linked to the insufficiency of local registry systems and records of real cases [4] [5] [8] [9] [10]. This may hinder investments in research and interventions for prevention and better treatment of chromosomal abnormalities in many countries [4] [7].…”

“…In addition to this, health systems in developing countries are today faced with enormous challenges including the deficiency or absence of prenatal screening, cytogenetic diagnosis and associated services [4] [5] [7] [8]. There are also other factors such as the insufficiency and obsolescence of equipment, lack of qualified human resources and fundings [4] [8] [11]. All these problems therefore prevent the patient to benefit from adequate care and adapted genetic counseling [5] [7].…”