Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, USA.
Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):262-73. doi: 10.1002/ajmg.c.30318. Epub 2011 Oct 14.
Acardia is a severe, complex malformation of monozygotic twinning, but beyond clinical case series, very few epidemiologic data are available. The goals of this study were to assess the epidemiologic characteristics of acardia from birth defect registries in the International Clearinghouse for Birth Defects Surveillance and Research (Clearinghouse), and compare these findings to current literature. The study included 17 surveillance programs of the Clearinghouse representing 23 countries from North and South America, Europe, China, and Australia. Anonymized individual records with clinical and demographic data were reviewed centrally by clinical geneticists. A literature search was performed. A total of 164 cases of acardia were reported from an underlying cohort of 21.2 million births. Of these, 23% were elective pregnancy terminations. Rates did not vary significantly by maternal age. For many cases, information on pregnancy exposures and genetic testing was missing. However, these limited data did not suggest high rates of chronic illnesses (diabetes, seizure disorders) or lifestyle factors such as smoking. One case had trisomy 13. Major malformations were reported in 2.4% of co-twins. With some basic assumptions, the total prevalence of acardia was estimated at 1 in 50,000-70,000 births, and 1 in 200-280 monozygotic twins. In summary, acardia is a dramatic, probably underreported, and incompletely understood malformation. Studies on its epidemiology and etiology are challenging and still rare. An international collaboration of epidemiologists, clinicians, and geneticists is necessary to understand the etiology, pathogenesis, and occurrence of this severe malformation complex.
无心畸形是单卵孪生的一种严重且复杂的畸形，但除了临床病例系列外，很少有流行病学数据。本研究的目的是评估国际出生缺陷监测和研究信息交换所（信息交换所）中来自出生缺陷登记处的无心畸形的流行病学特征，并将这些发现与当前文献进行比较。该研究包括信息交换所的 17 个监测计划，代表来自南北美洲、欧洲、中国和澳大利亚的 23 个国家。经过临床遗传学家的集中审查，对具有临床和人口统计学数据的匿名个体记录进行了研究。还进行了文献检索。在 2120 万例出生的基础队列中，共报告了 164 例无心畸形病例。其中，23%是选择性终止妊娠。母亲年龄不同，发生率没有显著差异。对于许多病例，关于妊娠暴露和基因检测的信息缺失。但是，这些有限的数据并未表明存在高比例的慢性疾病（糖尿病、癫痫）或生活方式因素，如吸烟。有一例为 13 三体。在同卵双胞胎中，2.4%报告有主要畸形。根据一些基本假设，无心畸形的总患病率估计为每 50000-70000 例活产 1 例，每 200-280 例单卵双胞胎 1 例。总之，无心畸形是一种严重且可能被低估的畸形，其发病机制尚不完全清楚。对其流行病学和病因学的研究具有挑战性，且仍然很少。有必要开展一个由流行病学家、临床医生和遗传学家组成的国际合作，以了解这种严重畸形综合征的病因、发病机制和发生情况。
