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Birth defects are one of the leading causes of neonatal mortality worldwide. Every year more than 8.14 million children are born with a serious birth defect. The risk factors predictive of birth defects in babies vary from country to country even from region to region. About 60% of the causes of birth defect in humans are still unknown. However, in...
Context in source publication
Context 1
... Factors Responsible for Birth Defect: Around 40% to 60% of congenital anomalies are of unknown aetiology; 20% due to hereditary. Others are due to genetic mutations, chromosomal abnormalities and maternal illnesses, such as diabetes or infection, or use of anticonvulsant or other drugs (Figure-2). 9 Many studies have been conducted to determine the association of various ...
Citations
... Birth defects (BDs), congenital anomalies, or congenital malformations develop during intrauterine life and may or may not be discovered until later in life. These defects result in lifelong disability and mortality, contributing to almost 20% of infant deaths [1,2]. The World Health Organization (WHO) described a BD as a significant abnormality that presents as physical, functional, or mental disability at birth [3]. ...
Abstract
Introduction: Birth defects are a significant concern since they can lead to permanent disability and death. This study comprehensively reviews the prevalence and patterns of birth defects in Saudi Arabia. Methods: A systematic analysis of the literature retrieved from three databases (Pub Med, Science Direct, and the Saudi digital library) published between 1989 and 2022 was performed. Observational studies that addressed the prevalence and patterns of birth defects in Saudi Arabia were chosen based on the eligibility criteria, while systematic reviews, review articles, non-relevant articles, and studies that did not fulfill the eligibility criteria were excluded. Quality and risk of bias were evaluated based on the JBI and GRADE tools, respectively. Results: We identified 26 eligible publications of 1277 records that included 297,668 patients from different regions of Saudi Arabia. The highest overall prevalence of birth defects was 46.5 per 1000 live births compared to a lowest rate of 8.6 per 1000 in one study. Several studies have reported positive associations of consanguinity, maternal folic acid supplementation, family history of birth defects or genetic abnormalities, and maternal co-morbidities. The most frequent birth defects include cardiac, genitourinary, craniofacial, and nervous system defects. Conclusion: Robust findings have improved our understanding of the prevalence and pattern of birth defects in Saudi Arabia. Importantly, future studies will likely require multicenter collaboration to arrive at appropriate sample sizes in the context of the effects of risk factors on elevated prevalence. Furthermore, quantitative data require careful evaluation in more complex statistical models.
... Birth defects refer to abnormalities present at birth in form, function, biochemistry, and mentality [1]. More than 8.14 million children are born with severe birth defects each year, which are among the principal causes of infant mortality [2]. The impacts of birth defects on human society are widespread, not only affecting survival and quality of life for those affected, but also resulting in emotional and economic burdens on the family [3]. ...
... The impacts of birth defects on human society are widespread, not only affecting survival and quality of life for those affected, but also resulting in emotional and economic burdens on the family [3]. Although many studies have attempted to unveil the causes of birth defects, most remain vague [2,3]. The established causes of birth defects can be roughly divided into three categories: i.e., genetic factors, environmental factors, and their interactions [4]. ...
... The established causes of birth defects can be roughly divided into three categories: i.e., genetic factors, environmental factors, and their interactions [4]. Genetic factors include chromosomal aberrations and genetic mutations, which can render severe intellectual disabilities and deformity [2,5]. ...
Background
Birth defects pose a major challenge to infant health. Thus far, however, the causes of most birth defects remain cryptic. Over the past few decades, considerable effort has been expended on disclosing the underlying mechanisms related to birth defects, yielding myriad treatises and data. To meet the increasing requirements for data resources, we developed a freely accessible birth defect multi-omics database (BDdb, http://t21omics.cngb.org ) consisting of multi-omics data and potential disease biomarkers.
Results
In total, omics datasets from 136 Gene Expression Omnibus (GEO) Series records, including 5245 samples, as well as 869 biomarkers of 22 birth defects in six different species, were integrated into the BDdb. The database provides a user-friendly interface for searching, browsing, and downloading data of interest. The BDdb also enables users to explore the correlations among different sequencing methods, such as chromatin immunoprecipitation sequencing (ChIP-Seq) and RNA sequencing (RNA-Seq) from different studies, to obtain the information on gene expression patterns from diverse aspects.
Conclusion
To the best of our knowledge, the BDdb is the first comprehensive database associated with birth defects, which should benefit the diagnosis and prevention of birth defects.
