Congenital anomalies and associated risk factors in a Saudi population: a cohort study from pregnancy to age 2 years

Abstract

ObjectiveTo assess the three key issues for congenital anomalies (CAs) prevention and care, namely, CA prevalence, risk factor prevalence and survival, in a longitudinal cohort in Riyadh, Saudi Arabia.SettingTertiary care centre, Riyadh, Saudi Arabia.ParticipantsSaudi women enrolled during pregnancy over 3 years and their 28 646 eligible pregnancy outcomes (births, stillbirths and elective terminations of pregnancy for foetal anomalies). The nested case-control study evaluated the CA risk factor profile of the underlying cohort. All CA cases (1179) and unaffected controls (1262) were followed through age 2 years. Referred mothers because of foetal anomaly and mothers who delivered outside the study centre and their pregnancy outcome were excluded.Primary outcome measuresPrevalence and pattern of major CAs, frequency of CA-related risk factors and survival through age 2 years.ResultsThe birth prevalence of CAs was 412/10 000 births (95% CI 388.6 to 434.9), driven mainly by congenital heart disease (148 per 10 000) (95% CI 134 to 162), renal malformations (113, 95% CI 110 to 125), neural tube defects (19, 95% CI 25.3 to 38.3) and chromosomal anomalies (27, 95% CI 21 to 33). In this study, the burden of potentially modifiable risk factors included high rates of diabetes (7.3%, OR 1.98, 95% CI 1.04 to 2.12), maternal age >40 years (7.0%, OR 2.1, 95% CI 1.35 to 3.3), consanguinity (54.5%, OR 1.5, 95% CI 1.28 to 1.81). The mortality for live births with CAs at 2 years of age was 15.8%.ConclusionsThis study documented specific opportunities to improve primary prevention and care. Specifically, folic acid fortification (the neural tube defect prevalence was >3 times that theoretically achievable by optimal fortification), preconception diabetes screening and consanguinity-related counselling could have significant and broad health benefits in this cohort and arguably in the larger Saudi population.

The prevalence and patterns of chromosome abnormalities in newborns with major congenital anomalies: A retrospective study from Saudi Arabia

“…In addition, numerical chromosome abnormalities were more prominent than structural chromosome abnormalities and Down syndrome (trisomy 21) was the most common recorded anomaly. In comparison with other studies, birth prevalence of chromosome abnormalities among newborns in Medina was within international rates, however it was relevantly higher compared to national studies (25,31). Table 5 summarizes the comparison between our study and some national and international studies.…”

Maternal folic acid and multivitamin supplementation: International clinical evidence with considerations for the prevention of folate-sensitive birth defects

“…Folic acid combination in multivitamin supplements has been shown to reduce additional congenital anomalies. Case-control cohorts, after FA fortification, highlight the decrease in folate sensitive congenital anomaly frequencies ( Czeizel, 1996 , Jahanbin et al, 2018 , Ingrid Goh et al, 2006 , Goh and Koren, 2008 , Johnson and Little, 2008 , Lowry et al, 2019 , Morris et al, 2018 , Nishigori et al, 2019 , Kondo et al, 2019 , McDonnell et al, 2018 , Mao et al, 2017 , Liu et al, 2019 , Liu et al, 2018 , Liu et al, 2018 , Kurdi et al, 2019 , Poletta et al, 2018 , Li et al, 2013 , Godwin et al, 2008 , Canfield et al, 2005 , Canfield et al, 2009 , Ray et al, 2002 , Wilcox et al, 2007 ).…”

Socioeconomic Determinants of Disability and Mortality Due to Congenital Anomalies: A Secondary Analysis of Existing Data

“…In these countries, polio, malaria, and diarrhea are the three leading causes of death under five. In countries with the lowest under-5 mortality rates (such as the EURO countries), congenital anomalies are also the leading cause of death [15]. Olusanya et al reported that the 4 disorders of epilepsy, mental retardation, and visual and auditory impairments are responsible for 28.9 million (19.9%) of the healthy years lost due to disability in children and adolescents.…”

“…Studies showed that low-income countries bear a large part of the burden of infectious diseases. With regard to congenital anomalies, studies show that congenital anomalies and their risk factors are mainly seen in people with lower socioeconomic status [14,15]. For example, Clark et al in a study in Scotland, showed that the prevalence of orofacial clefts increased with the decrease in socioeconomic status [16].…”