胎儿心室强光点及染色体异常的关系探讨 [中文引用][英文引用]

目的 探讨胎儿心室强光点及染色体异常的关系。方法 对西京医院2011年1月至2012年4月孕周在16～28周的1500例孕妇行胎儿B超和胎儿心脏B超筛查胎儿心室强光点，同时对发现心室强光点的孕妇行羊膜腔穿刺术抽取羊水，采用羊水G显带法和FISH法同时筛查胎儿染色体。结果 1500例孕妇中发现胎儿心室强光点66例，检出率4.4%，同时对66例心室强光点的胎儿进行羊水染色体筛查，结果发现4例染色体异常，其中52例单纯心室强光点病例中发现2例染色体异常，异常率为3.8%。另外14例合并其超声异常的心室强光点发现染色体异常2例，检出率14.2%，这2例为室间隔缺损伴随主动脉骑跨。结论 合并其它超声异常的染色体异常的检出率比单纯心室强光点的检出率高。而对有合并症的胎儿，可直接进行胎儿系统超声和心脏B超或羊膜腔穿刺术。

Objective  To investigate the relationship between echogenic intracardiac focus and chromosomal abnormalities in fetus. Method  We performed a retrospective analysis from January 2011 to April 2012 inXijing Hospital. We reviewed allcomprehensive ultrasonography and fetal echocardiography of 1500 cases from 16 to 28 weeks gestation in singleton pregnancies. Fetal chromosomal are screened with FISH experiment together with karyotype analysis. Results   Fetal echogenic intracardiac foci were diagnosed in 66 cases, for 4.4％ in screening examination of 1500 cases. FISH experiments together with karyotype analysiswere carried out simultaneously, and chromosomal abnormalities were diagnosed in 4 cases. Among these 52 isolated echogenic intracardiac foci 2 cases were diagnosed chromosomal abnormalities (3.8%). And among these 14 interventricular septal defects complicated by aortic overridings 2 cases were diagnosed chromosomal abnormalities (14.2%). Conclusions  Detection rate of chromosomal abnormalities with complication is higher than that of isolated echogenic intracardiac focus. We recommend that if echogenic intracardiac focus is complicated by abnormal ultrasonography the gravida should undergo comprehensive ultrasonography cardiac ultrasonography or amniocentesis.