Rooryck Caroline, Toutain Jérôme, Cailley Dorothée, Bouron Julie, Horovitz Jacques, Lacombe Didier, Arveiler Benoit, Saura Robert
CHU Bordeaux, Génétique médicale, F-33000 Bordeaux, France.
Eur J Med Genet. 2013 Jul;56(7):341-5. doi: 10.1016/j.ejmg.2013.02.003. Epub 2013 Feb 20.
Array-CGH or Chromosomal Microarray Analysis (CMA) is increasingly used in prenatal diagnosis throughout the world. However, routine practices are very different among centers and countries, regarding CMA indications, design and resolution of microarrays, notification and interpretation of Copy Number Alterations (CNA). We present our data and experience from our Fetal Medicine Center on 224 prospective prenatal diagnoses. Our approach is practical, and aims to propose a strategy to offer Chromosomal Microarray Analysis (CMA) to selected fetuses and to help to interpret CNA. We hope that this publication could encourage development of CMA in centers that have not started yet this activity in prenatal routine, and could contribute to edict guidelines in this field.
阵列比较基因组杂交（Array-CGH）或染色体微阵列分析（CMA）在全球产前诊断中的应用日益广泛。然而，在不同的中心和国家，关于CMA的适应证、微阵列的设计和分辨率、拷贝数变异（CNA）的报告和解读等常规做法差异很大。我们展示了我们胎儿医学中心对224例前瞻性产前诊断的相关数据和经验。我们的方法具有实用性，旨在提出一种策略，为选定的胎儿提供染色体微阵列分析（CMA），并帮助解读CNA。我们希望本出版物能够鼓励尚未在产前常规工作中开展此项活动的中心开展CMA，并有助于制定该领域的指南。
