Kurdi Ahmed M, Majeed-Saidan Muhammad Ali, Al Rakaf Maha S, AlHashem Amal M, Botto Lorenzo D, Baaqeel Hassan S, Ammari Amer N
Obstetrics & Gynecology, Prince Sultan Military Medical City, Riyadh, Al Riyadh, Saudi Arabia
Paediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
BMJ Open. 2019 Sep 5;9(9):e026351. doi: 10.1136/bmjopen-2018-026351.
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.
Tertiary care centre, Riyadh, Saudi Arabia.
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.
Prevalence and pattern of major CAs, frequency of CA-related risk factors and survival through age 2 years.
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%.
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.
评估沙特阿拉伯利雅得一个纵向队列中先天性异常（CA）预防与护理的三个关键问题，即CA患病率、危险因素患病率和存活率。
沙特阿拉伯利雅得的三级护理中心。
3年期间孕期登记的沙特女性及其28646例符合条件的妊娠结局（活产、死产和因胎儿异常进行的选择性妊娠终止）。巢式病例对照研究评估了基础队列的CA危险因素概况。所有CA病例（1179例）和未受影响的对照（1262例）随访至2岁。因胎儿异常转诊的母亲以及在研究中心以外分娩的母亲及其妊娠结局被排除。
主要CA的患病率和模式、CA相关危险因素的频率以及2岁时的存活率。
CA的出生患病率为412/10000例活产（95%CI 388.6至434.9），主要由先天性心脏病（每10000例148例）（95%CI 134至162）、肾脏畸形（113例，95%CI 110至125）、神经管缺陷（19例，95%CI 25.3至38.3）和染色体异常（27例，95%CI 21至33）所致。在本研究中，潜在可改变危险因素的负担包括糖尿病高发（7.3%，OR 1.98，95%CI 1.04至2.12）、母亲年龄>40岁（7.0%，OR 2.1，95%CI 1.35至3.3）、近亲结婚（54.5%，OR 1.5，95%CI 1.28至1.81）。2岁时患有CA的活产婴儿死亡率为15.8%。
本研究记录了改善一级预防和护理的具体机会。具体而言，叶酸强化（神经管缺陷患病率比理论上最佳强化可达到的水平高出3倍以上）、孕前糖尿病筛查和近亲结婚相关咨询可能对该队列以及更大的沙特人群产生重大且广泛的健康益处。
