摘要
目的 评估胎儿先天性心脏病（congenital heart diseases，CHD）遗传学异常情况，为孕期管理和遗传咨询提供依据。方法 对产前超声检查发现为先天性心脏畸形的胎儿共81例，采用绒毛活检／羊膜腔穿刺／脐静脉穿刺获取胎儿细胞，进行细胞培养染色体分析；对显带分析无染色体异常胎儿，采用短串联重复标记结合多重荧光定量PCR技术，检测其22q11．2区域微缺失和微重复情况，异常胎儿再用荧光原位杂交技术证实。结果 81例先天性心脏畸形胎儿，发现染色体异常34例，22q11．2微重复1例，总异常发现率为43．2％；合并心外畸形胎儿染色体异常率高于单纯心脏畸形胎儿（64．5％VS．28．0％）。染色体异常中，18三体有19例，占染色体异常病例的54．3％。结论 先天性心脏畸形的胎儿染色体异常率高，尤以18三体最为常见；如合并心外畸形，染色体异常概率明显增加；对显带分析染色体正常胎儿则需进行22q11．2区域微缺失和微重复检测。先天性心脏畸形胎儿的遗传学检测有助于孕期管理和遗传咨询。
Objective To investigate the genetic abnormalities of fetuses with congenital heart diseases（CHD）, and to provide guidance for the management of pregnancy and genetic counseling. Methods Eighty-one fetuses with CHD detected by fetal echocardiography were analyzed by karyotyping after amniocentesis, cordocentesis or chorionic sampling. Then 22q11. 2 deletion/duplication was detected by a competitive fluorescent multiplex short tandem repeat assay in 47 CHD fetuses without chromosomal abnormalities. With fluorescence in situ hybridization （FISH） using LSI dual color DNA probe, the deletion/duplication status was confirmed. Results Thirty-four of 81 CHD fetuses had chromosomal anomalies, and 1 of the 47 CHD fetuses without chromosomal anomalies had duplication at chromosome 22q11. The incidence of aneuploidy associated CHD was 43.2%. The rate of chromosomal anomalies is higher in the cases associated with extra-cardiac anomalies than in that with isolated CHD（64. 5 % versus 28.0%）. In the 35 fetuses with chromosomal abnormalities, 19（54. 3%） were trisomy 18. Conclusion Chromosomal abnormalities occurred in 43. 2% of CHD cases and trisomy 18 is the most common aneuploidy. The likelihood of chromosomal anomaly increases when there is extracardiac involvement. Testing for the 22q11.2 microdetetion/duplication is recommended in all CHD fetuses without chromosomal anomalies. It is important for the further management of pregnancy and genetic counseling.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2009年第2期128-133,共6页
Chinese Journal of Medical Genetics
基金
国家十一五重大科技支撑项目（2006BA105A08）
江苏省六大人才高峰项目（C类）
南京市医学发展重大项目（第二层次）
关键词
先天性心脏畸形
产前诊断
遗传学
胎儿
congenital heart defect
prenatal diagnosis
geneties
fetus
