产前超声诊断胎儿先天性心脏畸形与染色体异常的关系

Relationship between fetal congenital heart defects and chromosomal anomalies detected by prenatal ultrasound

目的应用超声探讨胎儿先天性心脏畸形与染色体异常的关系。方法回顾分析我院产前超声检查发现先天性心脏畸形,并行染色体检查的胎儿58例。结果 58例先天性心脏畸形胎儿中复杂畸形39例(67.2%),心内畸形合并心外畸形26例(44.8%);染色体异常16例(27.6%),其中18-三体综合征9例,21-三体综合征4例,13-三体综合征2例,47,XX,+8[16]\46,XX[44]1例。结论不同类型的胎儿先天性心脏畸形与染色体异常的关系不同;当产前超声发现胎儿先天性心脏畸形时,应仔细观察胎儿全身有无畸形及超声软标志,必要时行染色体检查以明确核型。

Objective To explore the relationship between fetal congenital heart defects （CHD）and chromosomal anomalies by ultrasound. Methods Fifty-eight fetuses with CHD and underwent chromosome examination were enrolled in this study, their data were analyzed retrospectively. Results In 58 cases, there were 39 fetuses （67.2%） of cardiac complicated deformity and 26 fetuses （44.8%） of extra cardiac malformations, 16 fetuses （27.6%） had chromosomal abnormalities including 9 cases oftrisomy 18, 4 cases oftrisomy 21, 2 cases oftrisomy 13, and 1 case of47,XX,＋8 [ 16]／46,XX [44]. Conclusion Different fetal CHD has different correlation with chromosomal abnormalities. When prenatal ultrasound diagnosis of heart malformations is made, we should check the fetus carefully and perform amniocentesis or umbilical cord blood puncture to confirm the chromosome karyotype when it is necessary.