Prenatal diagnosis using array-CGH: a French experience

Abstract

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.

Keywords: Array-comparative genomic hybridization; Chorionic villus sampling; Chromosomal Microarray Analysis; Copy number alterations; Copy number variant; Fetal ultrasound anomalies; Fluorescence in situ hybridization; Prenatal diagnosis; VOUS; Variant of unknown significance.