产前系统超声筛查与胎儿染色体异常的关系

The Correlation for Prenatal Ultrasound Screening of Fetal Malformations and Fetal Chromosomal Abnormality

目的:探讨产前系统超声筛查中晚孕期胎儿结构异常对指导进行侵入性产前诊断的价值。方法:2008年1月至2009年6月对我院中晚孕期孕妇行系统超声及超声心动图筛查,发现胎儿异常时经产前咨询及孕妇知情同意后,进行侵入性产前检查即羊水或脐静脉穿刺,进行染色体核型分析,分析各种类型的超声异常表现与染色体异常发病风险的关系。结果:共有105例超声检查发现胎儿异常的孕妇接受了羊水或脐静脉穿刺行胎儿染色体核型分析,77例超声发现严重异常的病例中检出26例染色体异常(26/77),严重异常组与微小异常组之间染色体异常发病的差异有高度统计学意义(χ2=12.566,P<0.001),尤其是胎儿先天性心脏病合并心外畸形时,染色体异常发病率高达55%(11/20)。结论:产前系统超声及超声心动图筛查可以发现大多数的胎儿发育异常,特别是胎儿先天性心脏病,可以为进一步进行侵入性产前诊断提供重要依据。

Objective:To assess the effectiveness of systematic ultrasound in second or third trimester to detect fetal malformations for instructing the necesity of further invasive prenatal diagnosis.Methods:This retrospective study included pregnancy women from January 2008 to June 2009 in the Affiliated Drum Tower hospital of Nanjing University Medical College.Those women had systematic ultrasound and echocardiogram examination within the second or third trimester of pregnancy.When fetal malformations were found,the invasive prenatal diagnosis(puncture of amniotic fluid or umbilical vein) was suggested to check the chromosomal abnormalities and analyze their relationship.Results:105 pregnant women who were found fetal abnormalities were recruited and had the invasive prenatal diagnosis,26 cases of chromosomal abnormalities were found in 77 obvious ultrasound abnormalities.There was significant difference in chromosomal abnormalities between obvious and minor ultrasound abnormalities(χ2=12.566,P<0.001),especially for fetal congenital heart disease(CHD) combined with extracardiac malformations,their chromosomal abnormalities could reach 55%(11/20).Conclusions: Prenatal systematic ultrasound and echocardiogram could find most of the fetal malformations,especially for CHD,and offer valuable evidence to accept the invasive prenatal diagnosis.