CAJ | 학술논문

目的：检测中期孕妇胎儿心脏畸形超声心动图与染色体异常变异，探讨其可能存在的关系。方法对本院2012年3月至2014年12月收治的5000例中期孕妇进行产前超声与染色体核型检查，综合比较分析胎儿心脏畸形超声心动图表现和染色体异常的关系。结果60例心脏畸形胎儿确诊病例中伴染色体异常者16例，占26.67%(16/60)，其中X单体1例，13-三体3例，18-三体7例，21-三体5例。16例先天性心脏病(CHD)胎儿中，全部的X单体和13-三体、60%的21-三体以及85.71%的18-三体患儿均伴有不同程度的心外器官的畸形。结论胎儿心脏结构畸形与染色体异常关系密切，产前超声筛查发现心脏畸形时应仔细检查胎儿是否合并心外系统畸形，并结合临床筛查指标建议行染色体检查。
목적：검측중기잉부태인심장기형초성심동도여염색체이상변이，탐토기가능존재적관계。방법대본원2012년3월지2014년12월수치적5000례중기잉부진행산전초성여염색체핵형검사，종합비교분석태인심장기형초성심동도표현화염색체이상적관계。결과60례심장기형태인학진병례중반염색체이상자16례，점26.67%(16/60)，기중X단체1례，13-삼체3례，18-삼체7례，21-삼체5례。16례선천성심장병(CHD)태인중，전부적X단체화13-삼체、60%적21-삼체이급85.71%적18-삼체환인균반유불동정도적심외기관적기형。결론태인심장결구기형여염색체이상관계밀절，산전초성사사발현심장기형시응자세검사태인시부합병심외계통기형，병결합림상사사지표건의행염색체검사。
Objective To explore the correlation between fetal cardiac malformations echocardiography and chromosomal abnormalities in mid-pregnancy. Methods A total of 5 000 cases of women in mid-pregnancy in our hospital from March 2012 to December 2014 who received prenatal ultrasound and karyotype examination were in-cluded in the study. And correlation between fetal cardiac malformations echocardiography and chromosomal abnor-malities was analyzed. Results In 60 fetal cardiac malformation cases, there were 16 chromosomal abnormalities cas-es which accounting for 26.67%(16/60), including 1 case of X monomer, 3 cases of trisomy 13, 7 cases of trisomy 18, and 5 cases of trisomy 21. While in 16 fetal congenital heart disease (CHD) cases, all X monomer and trisomy 13 cas-es, 60%of trisomy 21 cases and 85.71%of trisomy 18 cases were found with varying degrees of extracardiac malfor-mations. Conclusion Fetal cardiac malformations are closely related with chromosomal abnormalities. Therefore malformations should be carefully considered if fetal cardiac malformations were found in ultrasound screening, and a chromosome examination would be clinically recommended.