目的 通过彩色超声心动图产前筛查胎儿先天性心脏结构异常，严重异常则选择性终止妊娠部分胎儿行染色体分析，以提高先天性心脏病的产前诊断、干预水平。方法 回顾分析2006年1月至2010年12月，在产科行胎儿系统超声检查（孕11-14周和孕22-26周）发现胎儿心脏结构异常者的病例资料，并结合产前诊断中心胎儿大体解剖、染色体异常情况进行综合性分析。结果 28 056位孕妇中592例经超声心动图诊断先天性心脏病，经引产后尸解及产后随访证实先天性心脏病共84例，占14.19%。经尸解或产后随访证实的病例中，有38例行染色体核型分析，发现异常17例，其中13例为先天性心脏病合并心外畸形者，占34.21%（13/38）。结论 超声诊断先天性心脏病合并心外畸形者，应进行产前染色体检查，避免染色体异常综合征的患儿出生，提高生育质量。
Objective To investigate the clinical application value of fetal echocardiography in prenatal screening for fetal congenatal heart disease(CHD), and then perform chromsome karyotype analysis in abnormal fetal in order to elevate the diagnosis accuracy and intervention level for CHD. Methods The clinical data of fetus with CHD who undertook prenatal care in our-patient department during Jan 2006 to Dec 2010 were collected. The data were retrospectively analyzed, and gross anatomic tand chromosome abnormality were comprehensively analyzed. Results Among 28 056 pregnancies, 84 cases (14.19%) of fetal CHD were correctly diagnosed, then 38 patients performed chromosome examination. It revealed 17 chromosome abnormalities among which 13 patients diagnosed as CHD combined other system abnormalities (34.21%). Conclusion If a fetus diagnosed as CHD combined with other organ malformation, it would be better to perform chromosome karyotype analysis to avoid baby born with chromosomal abnormality ayndrome.
