染色体核型分析对胎儿水肿查因的临床价值

Application of karyotype analysis in finding the causes of fetal hydrops

目的探讨染色体异常与胎儿水肿的关系及对水肿胎行染色体核型分析的临床意义。方法 2002年4月至2010年8月中山大学附属第一医院,对99例经超声诊断为胎儿水肿综合征的病例行胎儿染色体核型分析、α地中海贫血基因诊断;母亲Rh血型及抗D抗体和ABO血型及相关抗体检查;统计染色体异常水肿胎的比例及分析其特征。结果染色体异常水肿胎占所有水肿胎的15.2%,异常核型以18-三体、45,X和21-三体为主;孕11～20周超声首次诊断出的水肿胎组异常染色体检出率(52.0%)明显高于孕21～36周超声首次诊断出的水肿胎组(2.7%),差异有统计学意义(χ2=31.594,P<0.001)。结论染色体异常是导致胎儿水肿的重要原因,在孕20周前进行胎儿水肿查因时染色体核型分析是一种有效的手段。

Objective To investigate the relation between chromosome abnormality and fetal hydrops and the clinical significance of karyotype analysis for fetuses with fetal hydrops. Methods 99 cases diagnosed by ultrasound as fetal edema syndrome were chosen. Karyotype analysis and α-thalassemia gene diagnosis were made for fetuses. Inspections of Rh blood type, anti-D antibody, ABO blood type and related antibodies were done for mothers. Calculate the ratio of fetuses with fetal hydrops and chromosome abnormality and analyze their characteristics. Results In all fetuses with fetal hy- drops ,the proportion of fetuses with fetal hydrops and chromosome abnormality was 15.2%. Abnormal karyotype mainly consisted of trisomy 18, 45, X and trisomy 21. Fetuses with fetal hydrops were divided into two groups by the time when fetal hydrops was diagnosed by ultrasound for the first time：l 1 - 20 gestational weeks group and 21 -36 gestational weeks group. Abnormal chromosome detection rate of 11 - 20 gestational weeks group was 52. 0% , that of 21 - 36 gestational weeks group was 2. 7%. The former was obviously higher than the latter（ X^2 = 31. 594,P 〈 0. 001 ）. Conclusions Chromosome abnormality is an important reason leading to fetal hydrops. Karyotype analysis is an effective means of finding the causes of fetal hydrops before 20 gestational weeks .