Background: Children with DS are at higher risk of developing congenital anomalies, particularly cardiac anomalies.
Methods: Medical records of 502 DS patients were reviewed. The logistic regression analyses were performed to determine independent predictors.
Results: Of the total 502 study subjects, 53.4% were males. Only 1.4% of the DS case diagnosis were confirmed by karyotyping. All cases were diagnosed postnatally. The median age at DS diagnosis was 5 months. About 13% were born preterm; 50.2% of the subjects maternal age at conception were thirty-five years and above. Over three-quarters (75.1%) had at least one structural congenital anomaly. Multiple anomalies were diagnosed in 12.8% of the subjects. At least one cardiac congenital anomaly was diagnosed in 67.3% of the study subjects, and 32.8% of them were diagnosed with multiple cardiac anomalies. Patent ductus arteriosus (28.5%), Ventricular septal defect (23.2%), and AVSD (21.9%) were the three common lesions. At least one genitourinary system anomaly was identified in 32 (6.4%) of them. Roughly, 8% of study participants exhibited congenital anomaly of the head, eye, nose, and throat. Anorectal malformation was found as the most common gastrointestinal anomaly. Maternal age at conception was found as independent predictor for presence of structural congenital anomaly (AOR 2.59; 95% CI 1.58– 4.23, p-value < 0.01). Advanced maternal age is also found increasing the risk of developing congenital heart defect (AOR 2.37; 95% CI 1.52– 3.7, p-value < 0.01).
Conclusion: High prevalence of congenital anomalies has been noted in the current study compared to previous studies. Predictive factors increasing risk of congenital anomalies in DS patients have been identified. The current findings may help in developing strategies and more targeted preventive and therapeutic interventions.



中文翻译：

---

唐氏综合症患者先天性心脏缺陷和其他主要非综合症先天性异常的患病率和模式：一项回顾性研究

背景：患有 DS 的儿童发生先天性异常的风险较高，尤其是心脏异常。
方法：回顾了 502 名 DS 患者的医疗记录。进行逻辑回归分析以确定独立的预测因子。
结果：在总共 502 名研究对象中，53.4% 为男性。只有 1.4% 的 DS 病例诊断通过核型分析得到证实。所有病例均在产后确诊。 DS 诊断时的中位年龄为 5 个月。大约 13% 是早产； 50.2%的受试者受孕年龄为35岁及以上。超过四分之三（75.1%）的人至少有一种结构性先天异​​常。 12.8% 的受试者被诊断出多种异常。 67.3%的研究对象被诊断出至少一种心脏先天性异常，其中32.8%被诊断出患有多种心脏先天性异常。动脉导管未闭（28.5%）、室间隔缺损（23.2%）和AVSD（21.9%）是三种常见病变。其中 32 人（6.4%）至少发现一种泌尿生殖系统异常。大约 8% 的研究参与者表现出头部、眼睛、鼻子和喉咙的先天性异常。肛门直肠畸形被发现是最常见的胃肠道异常。研究发现，母亲受孕年龄是存在先天性结构异常的独立预测因素（AOR 2.59；95% CI 1.58–4.23，p 值 < 0.01）。研究还发现，高龄产妇发生先天性心脏缺陷的风险会增加（AOR 2.37；95% CI 1.52–3.7，p 值 < 0.01）。
结论：与之前的研究相比，本研究注意到先天性异常的患病率较高。增加 DS 患者先天异常风险的预测因素已经确定。目前的发现可能有助于制定策略和更有针对性的预防和治疗干预措施。