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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 improve the prenatal diagnosis of congenital heart disease (CHD) by analyzing the chromosomal abnormality of fetus with congenital heart disease detected by prenatal echocardiography. Methods From January 2006 to December 2010, 28 056 pregnant women (aged from 19 to 43 (27.48 ± 4.35) years) underwent echocardiography (11 to 14 weeks of gestation and 22 to 26 weeks of gestation) Pregnancy (28.65 ± 5.12) weeks], found abnormal cardiac structure of the fetus and then terminate the pregnancy after chromosomal examination, combined with fetal gross anatomy, chromosomal abnormalities were analyzed. Results Fetal echocardiography in the past 5 years showed that 592 cases of CHD and 79 cases of fetal congenital heart disease confirmed by autopsy, of which 38 cases had chromosomal examination and 17 cases had chromosomal abnormalities, including 21 cases of trisomy in 3 cases , 18- trisomy in 7 cases, Kirschner’s syndrome in 1 case, triploid in 1 case, 46 cases in 1 case, XX in 1 case, 45 cases in X / 46,46 cases, X, r (X) example. Conclusion Complex congenital heart disease or congenital heart disease combined with other extra-cardiac malformations should be analyzed karyotype to avoid the birth of children with chromosomal abnormalities.