Acardia: epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research.
Acardia: epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research.
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Acardia：国际出生缺陷监测和研究信息交换所的流行病学调查结果和文献综述。
DOI：
10.1002/ajmg.c.30318
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发表时间：
2011
期刊：
影响因子：
--
通讯作者：
Martinez-Frias,Maria-Luisa
中科院分区：
文献类型：
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作者：
Botto,LorenzoD;Feldkamp,MarciaL;Amar,Emmanuelle;Carey,JohnC;Castilla,EduardoE;Clementi,Maurizio;Cocchi,Guido;deWalle,HermienEK;Halliday,Jane;Leoncini,Emanuele;Li,Zhu;Lowry,RBrian;Marengo,LisaK;Martinez-Frias,Maria-Luisa
心动过速是一种严重的、复杂的单卵双胞胎畸形，但除了临床病例系列，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（Clearinghouse）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。该研究包括来自北美和南美，欧洲，中国和澳大利亚的23个国家的17个监测项目。临床遗传学家集中审查了具有临床和人口统计数据的匿名个人记录。进行了文献检索。在2120万名新生儿的基础队列中，共报告了164例心脏病病例。其中，23%是选择性终止妊娠。产妇年龄的差异并不显著。在许多情况下，关于怀孕暴露和基因检测的信息缺失。然而，这些有限的数据并没有表明慢性疾病（糖尿病，癫痫发作）或生活方式因素（如吸烟）的高发病率。1例为13三体。在2.4%的双胞胎中报告了严重畸形。根据一些基本的假设，无心畸形的总患病率估计为1/50，000 - 70，000出生，1/200-280单卵双胞胎。总之，无心畸形是一个引人注目的，可能被低估，并不完全了解畸形。关于其流行病学和病原学的研究具有挑战性，并且仍然很少。流行病学家，临床医生和遗传学家的国际合作是必要的，以了解病因，发病机制和这种严重的畸形复杂的发生。© 2011 Wiley Periodicals，Inc.
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. © 2011 Wiley Periodicals, Inc.