Nonchromosomal congenital anomalies (NCAs) are the most common cause of infant mortality and morbidity. The role of maternal age is well known, although the specifics are not thoroughly elucidated in the literature. To evaluate the role of maternal age in the incidence of NCAs and to pinpoint age groups at higher risk to refine screening protocols. A systematic review and meta-analysis were conducted following the PRISMA 2020 guidelines and . Searches were performed on October 19, 2021, across MEDLINE (via PubMed), Cochrane Library (CENTRAL), and Embase. Population-based studies assessing the impact of maternal age on the incidence of NCAs in pregnant women were included, without restrictions on age range, country, or comorbidities. A random-effects model was used for pooling effect sizes, considering the heterogeneity across studies. From 15,547 studies, 72 were synthesized. Maternal age >35 showed an increased NCA risk (risk ratio [RR]: 1.31, confidence interval [CI]: 1.07 -1.61), rising notably after>40 (RR: 1.44, CI: 1.25 -1.66). The latter changes to 1.25 (CI: 1.08 -1.46) if the co-occurrence of chromosomal aberrations is excluded. Specific anomalies like cleft lip/palate (>40, RR: 1.57, CI: 1.11 -2.20) and circulatory system defects (>40, RR: 1.94, CI: 1.28 -2.93) were significantly associated with advanced maternal age. Conversely, gastroschisis was linked to mothers <20 (RR: 3.08, CI: 2.74 -3.47). The study confirms that both very young and advanced maternal ages significantly increase the risk of NCAs. There is a pressing need for age-specific prenatal screening protocols to better detect these anomalies, especially considering the current trend of delayed childbearing. Further research is required to fully understand the impact of maternal age on the prevalence of rarer NCAs.

中文翻译：

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非常年轻和高龄产妇极大地增加了非染色体先天性异常的发生：基于人群的研究的系统回顾和荟萃分析


非染色体先天性异常（NCA）是婴儿死亡和发病的最常见原因。母亲年龄的作用是众所周知的，尽管文献中没有彻底阐明具体细节。评估母亲年龄在 NCA 发病率中的作用，并查明风险较高的年龄组，以完善筛查方案。根据 PRISMA 2020 指南和 进行了系统回顾和荟萃分析。检索于 2021 年 10 月 19 日在 MEDLINE（通过 PubMed）、Cochrane 图书馆 (CENTRAL) 和 Embase 进行。纳入了基于人群的研究，评估孕产妇年龄对孕妇 NCA 发病率的影响，不受年龄范围、国家或合并症的限制。考虑到研究之间的异质性，使用随机效应模型来汇总效应大小。从 15,547 项研究中，综合了 72 项。母亲年龄>35岁显示NCA风险增加（风险比[RR]：1.31，置信区间[CI]：1.07 -1.61），>40岁后显着上升（RR：1.44，CI：1.25 -1.66）。如果排除同时出现的染色体畸变，则后者变为 1.25（CI：1.08 -1.46）。唇裂/腭裂（>40，RR：1.57，CI：1.11 -2.20）和循环系统缺陷（>40，RR：1.94，CI：1.28 -2.93）等特定异常与高龄产妇显着相关。相反，腹裂与 20 岁以下的母亲有关（RR：3.08，CI：2.74 -3.47）。研究证实，非常年轻和高龄产妇的 NCA 风险都会显着增加。迫切需要针对特定​​年龄的产前筛查方案，以更好地检测这些异常情况，特别是考虑到当前推迟生育的趋势。 需要进一步的研究来充分了解母亲年龄对罕见 NCA 患病率的影响。