The incidence of congenital hypothyroidism, dyshormonogenesis and the associated malformations and diseases are higher than those reported in the literature. Cord blood as a screening method is associated with a significant number of missed cases.

The prevalence of major birth defects in the study population is higher than what is reported from European countries. Consanguinity is a significant independent risk factor for the high prevalence of birth defects.

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.

BackgroundAlthough the role of folic acid (FA) in preventing neural tube defects (NTDs) is well documented, its optimal intake in pregnant women is still low in many countries. Here, we prospectively studied the prevalence of NTDs in the newborns and the patterns of FA intake in pregnant Saudi mothers.MethodsThis case–control study was nested within a 3-year project (July 2010 to June 2013) to study the patterns of birth defects in the offspring of Saudi women who received their antenatal care and delivered at Prince Sultan Military Medical City, Riyadh—Saudi Arabia. Enrolled mothers were divided into 4 groups: group 1 (FA taken before pregnancy and continued regularly after conception), group 2 (FA taken post-conception), group 3 (no FA intake), and group 4 (did not remember or were unsure of taking FA). Control mothers were randomly selected from those with normal first obstetrical ultrasound scan at 18–22 weeks of gestation.ResultsThe cohort included 30,531 mothers giving birth to 28,646 infants. We studied 1179 mothers of babies with birth defects (BDs) and 1262 control mothers. There were 237 (9.7%) mothers in-group 1; 2001 (82%) in-group 2; 154 (6.3%) in-group 3; and 49 (2%) in-group 4. There were 49 babies with NTDs, a prevalence of 1.7/1000 total births. Among the studied mothers 2274 (93%) took FA either full or partial course.ConclusionThe high prevalence of NTDs and the low optimal FA intake highlight the need for a strict implementation of staple food fortification and health education program for Saudi women.

Background: Congenital heart defects (CHD) are the most common types of birth defects. The prevalence of CHD, mostly from retrospective studies, ranges between 2.1 and 10.7/1000 live births. For physicians to provide appropriate health care, it is important to know the prevalence of CHD within their patient populations. In this prospective study, we assessed the prevalence, risk factors, types, and survival of CHD among babies born to Saudi mothers over a three-year period. Methods: In this prospective cohort study, all women delivered at Prince Sultan Military Medical City, Saudi Arabia over a three-year period and were recruited during their antenatal care visits or at delivery. Antenatal foetal anomaly scan, postnatal clinical examination, echocardiography, cardiac catheterization, and follow-up to 2 years of age were used to assess the patterns, prevalence, and survival of babies with CHD. A case-control study was nested within the original cohort to assess risk factors for CHD. Results: Of 28,646 eligible births, 424 babies were diagnosed with CHD (14.8/1000 births), and 91 of these babies had severe CHD (3.2/1000 births). Associated non-cardiac anomalies were found in 40.1% (170 of 424) of these babies. Trisomy 21 was the most frequent chromosomal anomaly. Within the first 2 years of life, 74 of 424 babies died (17.4%). Among mothers with infants who had CHD without associated non-cardiac anomalies, risk factors for CHD included maternal age ≥ 31 years, body mass index ≥30, insulin-dependent diabetes, and an occupation of an unemployed housewife. Conclusion: In the Saudi population we studied, the prevalence of CHD was higher than reported in other populations in the Middle East and in Europe. Plans to ameliorate modifiable risk factors and improve prenatal diagnosis of CHD are needed.