利用染色体微整列技术对胎儿先天性心脏缺陷或发育异常的产前诊断（英文）

【作者】 施炜慧； 李淑元； 刘雪丽； 徐晨明；

【机构】 中国福利会国际和平妇幼保健院； 上海交通大学胚胎源性疾病研究所；

【摘要】 <正>Objectives:Congenital heart defects (CHD) are considered the most common birth defects.This study aimed to identify copy number variations (CNVs) in fetuses with congenital heart defects(CHDs) through chromosomal microarray analysis (CMA).Methods:Total 348 cases with mild or severe CHD detected with ultrasonography were enrolled in our study.126 unbilical cord blood samples and 222 amniotic fluid samples were obtained for extraction of fetalis genormic DNA.Chromosomal microarray analysis was performed on the Affymetrix CytoScan HD platform.更多还原