ArticleBMJ open2019
Congenital anomalies and associated risk factors in a Saudi population: a cohort study from pregnancy to age 2 years.
Article in BMJ open, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 5 of them syntheses that pooled it.
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Who cites it
28 citing papers in PubMed, 5 syntheses or guidelines pooled it, 44 citations in OpenAlex.
- Systematic review and meta-analysis of the association between young maternal age and fetal abnormalities.Scientific reports · 2024Pooled it
- The effect of folic acid intake on congenital anomalies. A systematic review and meta-analysis.Frontiers in pediatrics · 2024Pooled it
- Birth prevalence and risk factors of neural tube defects in Ethiopia: a systematic review and meta-analysis.BMJ open · 2023Pooled it
- Congenital anomalies and maternal age: A systematic review and meta-analysis of observational studies.Acta obstetricia et gynecologica Scandinavica · 2022Pooled it
- Prevalence of Gestational Diabetes Mellitus in the Middle East and North Africa, 2000-2019: A Systematic Review, Meta-Analysis, and Meta-Regression.Frontiers in endocrinology · 2021Pooled it
- Phenotypic Spectrum and Limb-Length Discrepancy in Congenital Lower Limb Deficiencies: A Tertiary Care Center Experience.Children (Basel, Switzerland) · 2026Article
- Neonatal and pediatric nutritional care: a modified Delphi consensus on dietary management for infants with congenital heart disease in four Middle Eastern countries.Frontiers in pediatrics · 2026Review
- A comprehensive survey of congenital malformations in three governorates of Southern Iraq (Basrah, Misan, and Thi Qar), 2020-2023.BMC pregnancy and childbirth · 2025Article
- Initiation of Antenatal Care Among Pregnant Women in Saudi Arabia: An Application of Andersen's Behavioral Model Using a Cross-Sectional Study.Healthcare (Basel, Switzerland) · 2025Article
- Patterns and Associated Factors of Congenital Anomalies Among Neonates in 14 Yemeni Governorates 2021-2023: A Case: Control Study.Global epidemiology · 2025Article
- Maternal Risk Factors, Patterns, and Outcomes of Antenatal Congenital Anomalies: A Hospital-Based Study.Diagnostics (Basel, Switzerland) · 2025Article
- Epidemiology of congenital anomalies in the Gulf Cooperation Council countries: a scoping review.BMJ open · 2025Article
- Association of birth defects during the perinatal period with child mortality under 5 years.Frontiers in pediatrics · 2025Article
- Community Awareness and Perceptions of Genitourinary Malformations: A Cross-Sectional Survey Study.Healthcare (Basel, Switzerland) · 2024Article
- Prevalence and associated factors of clubfoot in the eastern province of Saudi Arabia: A hospital-based study.World journal of orthopedics · 2024Article
- Determinants of externally visible birth defects among perinatal deaths at Adama Comprehensive Specialized Hospital: a case-control study.BMC pediatrics · 2024Article
- Examining the Prevalence of Congenital Anomalies in Newborns: A Cross-Sectional Study at a Tertiary Care Maternity Hospital in Saudi Arabia.Children (Basel, Switzerland) · 2024Article
- Prevalence and Pattern of Birth Defects in Saudi Arabia: A Systematic Review of Observational Studies.Pediatric reports · 2023Review
- Prevalence, predictors, and outcomes of major congenital anomalies: A population-based register study.Scientific reports · 2023Article
- Challenges of having a child with congenital anomalies in Saudi Arabia: a qualitative exploration of mothers' experience.Frontiers in public health · 2023Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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 MEASURES: Prevalence 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.
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