胎儿先天性心脏病与染色体异常的临床分析

Clinical analysis of fetal congenital heart disease and chromosome abnormalities

目的通过分析产前超声心动图筛查出的胎儿先天性心脏病其染色体异常情况,提高胎儿先天性心脏病(congenital heart disease,CHD)的产前诊断率。方法 2006年1月至2010年12月在本院产科门诊行超声心动图检查(孕11～14周和孕22～26周)的孕妇28 056例[年龄19～43(27.48±4.35)岁,孕(28.65±5.12)周],发现心脏结构异常的胎儿再行染色体检查后终止妊娠,结合胎儿大体解剖、染色体异常情况进行综合分析。结果近5年本院胎儿超声心动图检查提示CHD 592例,引产后尸解证实的胎儿先天性心脏病79例,其中38例行染色体检查,发现染色体异常17例,其中21-三体3例,18-三体7例,克氏综合征1例,三倍体1例,46,XX性反转1例,45,X/46,46,X,r(X)1例,小Y 5例。结论复杂型先天性心脏病或先天性心脏病合并其他心外畸形的胎儿应进行核型分析,避免染色体异常综合征患儿的出生。

Objective To analyze the relationship between fetal congenital heart disease（CHD） and chromosome abnormalities in order to elevate the prenatal diagnosis accuracy for CHD.Methods Clinical data of 28 056 pregnant women with a mean age of 27.48±4.35 and a mean pregnancy period of 28.65±5.12 weeks in our out-patient department during Jan 2006 to Dec 2010 were enrolled in this study.Those fetus with CHD by ultrasonic cardiography further underwent chromosome examination.Gross anatomy was performed on the aborted fetuses,and the results were analyzes with those of ultrasonogram and chromosome karyotypes.Results Ultrasonic cardiography indicated that there were 592 fetuses with CHD in this group of pregnant women.In our valid follow-up,there were 79 aborted fetuses with identified CHD by gross anatomy.Among the 38 cases receiving chromosome examination,17 cases were with chromosome abnormality.Trisomy 21 was found in 3 cases,trisomy 18 in 7 cases,Klinefelter syndrome in 1 case,triploid in 1 case,sex reversal in 1 case,45,X/46,46,X,r（X） in 1 case,and little Y in 5 cases.Conclusion Prenatal chromosome examination should be carried out in the fetus with ultrasonography-diagnosed complex CHD or CHD combined with other organ abnormalities in order to elevate prenatal detection and avoid the birth of fetus with chromosome abnormalities.