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目的探讨不同产前诊断指征在异常羊水染色体诊断中的价值。方法取2011年1月-2014年12月在福建医科大学附属闽东医院产前诊断中心行羊水穿刺的孕妇1341例,对不同产前诊断指征的羊水细胞染色体结果进行比较,评价各指征对胎儿染色体异常的提示作用。结果 1341例羊水细胞染色体中共检出44例异常核型,血清学21-三体高风险组、血清学18-三体高风险组、高龄组、彩超异常组、其他因素组检出率分别为3.07、25.81、1.07、11.11、4.54%。结论对于血清学21-三体、18-三体高风险组应行羊水染色体检查,而单纯高龄也可先行血清学筛查,并重视孕期彩超筛查。
Objective To investigate the value of different prenatal diagnosis indications in the diagnosis of abnormal amniotic fluid chromosomes. Methods From January 2011 to December 2014, 1341 pregnant women with amniocentesis by prenatal diagnosis center of Fujian Medical University Affiliated Fujian Provincial Hospital were enrolled. Chromosome results of amniotic fluid were compared among different prenatal diagnosis indications, Suggestive effect on fetal chromosomal abnormalities. Results A total of 44 cases of abnormal karyotype, serological 21-trisomy high-risk group, high-risk serologic 18-trisomy group, advanced age group and abnormal color Doppler ultrasound were detected in 1341 amniotic fluid cell chromosomes. The detection rates of the other factors were 3.07, 25.81, 1.07, 11.11, 4.54%. Conclusion Serological 21-trisomy, 18-trisomy high risk group should be checked for amniotic fluid chromosomes, and simple elderly serological screening may also be first, and emphasis on screening during pregnancy color Doppler ultrasound.