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


ABSTRACT: OBJECTIVE:To 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. SETTING:Tertiary care centre, Riyadh, Saudi Arabia. PARTICIPANTS:Saudi 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. RESULTS:The 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%. CONCLUSIONS:This 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.

SUBMITTER: Kurdi AM 

PROVIDER: S-EPMC6731804 | biostudies-other | 2019 Sep

REPOSITORIES: biostudies-other

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

Kurdi Ahmed M AM   Majeed-Saidan Muhammad Ali MA   Al Rakaf Maha S MS   AlHashem Amal M AM   Botto Lorenzo D LD   Baaqeel Hassan S HS   Ammari Amer N AN  

BMJ open 20190905 9


<h4>Objective</h4>To 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.<h4>Setting</h4>Tertiary care centre, Riyadh, Saudi Arabia.<h4>Participants</h4>Saudi 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 e  ...[more]

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