34例特纳综合征羊水染色体核型分析与临床诊断

34 cases of amniotic fluid Turner syndrome karyotype analysis and clinical diagnosis

目的研究不同产前诊断指征在胎儿特纳综合征诊断中的应用价值。方法通过对有产前诊断指征的14 837例孕妇行羊膜腔穿刺,抽取羊水进行羊水细胞遗传学检查。胎儿染色体结构异常者需对父母进行外周血染色体检查。结果本实验室14 837例羊水,共检测出34例特纳综合征,其中17例45,X,17例为嵌合型特纳综合征核型,异常率为0.2%(34/14837),特纳综合征的产前诊断指征主要为唐氏筛查高危,23例,占总的67.6(23/34),还有胎儿水肿,父母地贫携带者等。结论特纳综合征的检测唐氏血清学筛查中孕期产前诊断指征中最重要的指标,应做好产前诊断。

Objective： Research different indications of prenatal diagnosis value in the diagnosis of fetal Turner syndrome. Methods： Based on 14 837 cases of pregnant women in line with prenatal diagnosis indications amniotic cavity puncture, extraction of the amniotic fluid in the amniofic fluid cytogenetic examination. Fetal abnormal chromosome structure peripheral blood chromosome examination should be carded out to their parents. Results： In this lab, 14 837 cases of amniotic fluid were detected in 34 cases of Turner syndrome, 17 cases of 45,X, 17 cases of chimeric type karyotype of Turner syndrome, the abnormal rate was 0.2% （34/14837） , an indication of the prenatal diagnosis of Turner syndrome mainly for down syndrome screening high- risk, 23 cases, accounting for the total 67.6 （23/34） , and fetal edema, parents to lean carders, etc.Conclusion： Detection of Turner syndrome serological screening for down syndrome during pregnancy in prenatal diagnosis indications of the most important indicators, should do well in prenatal diagnosis.