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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 To study the value of different prenatal diagnosis indications in the diagnosis of fetal Turner syndrome. Methods Amniocentesis was performed on 14 837 pregnant women with prenatal diagnosis indications, and amniotic fluid was extracted for cytogenetics. Fetal chromosomal abnormalities need to parents of peripheral blood chromosome examination. Results A total of 14 cases of Turner’s syndrome were detected in 14 837 cases of amniotic fluid in our laboratory. Among them, 17 cases were 45, X, 17 cases were chimeric Turner syndrome karyotype, the abnormality rate was 0.2% (34/14837) The prenatal diagnosis of Turner syndrome indications for Down’s screening of high risk, 23 cases, accounting for 67.6 (23/34), as well as fetal edema, and other carriers of thalassemia. Conclusions Turner syndrome detection of Down’s serological screening during pregnancy prenatal diagnosis indications of the most important indicators, prenatal diagnosis should be done.