Castilla Eduardo E, Mastroiacovo Pierpaolo, Orioli Iêda M
ECLAMC/GENETICA/FIOCRUZ, Av. Brasil 4365, Pav. 26, sala 617, 21045-900 Rio de Janeiro, Brazil.
Am J Med Genet C Semin Med Genet. 2008 Aug 15;148C(3):162-79. doi: 10.1002/ajmg.c.30181.
Gastroschisis offers the intriguing epidemiological situation of a pandemic, strongly associated with very low maternal age. Identifying gastroschisis, and distinguishing it from the other abdominal wall defects, is theoretically easy but difficult in practice. The baseline birth prevalence of gastroschisis before the pandemic was approximately 1 in 50,000 births and has increased since between 10- and 20-fold. In many populations worldwide, it is still increasing. Such increasing prevalence and the association with very low maternal age are well proven, but the interaction between these two findings remains unknown. Geographic gradients (decreasing prevalence from North to South) are clear in Continental Europe and suggestive in Britain and Ireland. Gastroschisis seems more frequent in Caucasians compared to African Blacks and Orientals, and in Northern compared to Southern Europeans. These observations indicate the need for investigating gene-environment interactions. Since the global human situation is marked by inequalities among as well as within countries, the medical care and public health impact of gastroschisis varies widely among regions and social strata. The postnatal benefits of prenatal diagnosis of gastroschisis include family awareness; adequate planning of delivery with alerted obstetrical, pediatric, and surgical staff; optimal risk categorization, and personalized protocol for action. The increasing prevalence of gastroschisis combined with improved medical techniques to reduce morbidity and mortality are also increasing the burden and costs of this anomaly on health systems.
腹裂呈现出一种类似大流行病的有趣流行病学情况，与极低的产妇年龄密切相关。从理论上讲，识别腹裂并将其与其他腹壁缺陷区分开来很容易，但在实践中却很困难。在大流行之前，腹裂的基线出生患病率约为每50000例出生中有1例，此后增加了10至20倍。在全球许多人群中，其患病率仍在上升。这种患病率的上升以及与极低产妇年龄的关联已得到充分证实，但这两个发现之间的相互作用仍不清楚。在欧洲大陆，地理梯度（从北向南患病率降低）很明显，在英国和爱尔兰也有一定暗示。与非洲黑人及东方人相比，腹裂在白种人中似乎更常见；与南欧人相比，在北欧人中更常见。这些观察结果表明需要研究基因与环境的相互作用。由于全球人类状况的特点是国家之间以及国家内部存在不平等，腹裂对医疗保健和公共卫生的影响在不同地区和社会阶层中差异很大。产前诊断腹裂的产后益处包括提高家庭认知度；在产科、儿科和外科工作人员警觉的情况下对分娩进行充分规划；进行最佳风险分类以及制定个性化的行动方案。腹裂患病率的上升，再加上旨在降低发病率和死亡率的医疗技术的改进，也增加了这种异常情况给卫生系统带来的负担和成本。
