摘要目的 明确2例先天性心脏病(congenital heart disease,CHD)胎儿的基因组拷贝数变异(copy number variations,CNVs)的性质,探讨3q微缺失与CHD的关系.方法 提取CHD胎儿脐带组织的DNA,用全基因组低覆盖度测序检测其CNVs.结果 2例CHD胎儿均携带3q微缺失.病例1表现为室间隔缺损、唇腭裂,携带3q29区1.66 Mb的缺失,涉及3q29微缺失综合征的所有关键基因.病例2表现为主动脉骑跨、室间隔缺损,携带3q28区240 kb的缺失,未发现明确与该片段相关的致病信息.结论 3q29微缺失可能导致CHD、唇腭裂等多发畸形.全基因组低覆盖度测序可用于检测CNVs.

abstractsObjective To determine the nature of genomic copy number variations (CNVs) in two fetuses with congenital heart defects (CHD) and explore the correlation between 3q microdeletions and CHD.Methods Genomic DNA was extracted from fetal umbilical cord tissue,and chromosome copy number variations were detected by low coverage whole genome sequencing.Results Both fetuses had microdeletions of the long arm of chromosome 3.Fetus 1 had ventricular septal defect,cleft lip and palate,and a 1.66 Mb deletion on 3q29.The deleted region encompassed all of the critical genes for 3q29 microdeletion syndrome.Fetus 2 had overriding aorta,ventricular septal defect,and a novel 240 kb deletion on 3q28.Conclusion 3q29 microdeletion may result in CHD in combination with cleft lip and palate.Genomic CNVs can be detected by low coverage whole genome sequencing.