977例胎儿羊水染色体检查结果分析及其临床意义

Analysis on the examination results of prenatal amniotic fluid chromosomes in 977 fetuses and the clinical significance

目的:分析977例胎儿羊水染色体检查结果及临床意义。方法:回顾性分析2015年1月~2019年10月有产前诊断指征的977例高危孕妇病历资料,比较不同年龄组及不同产前诊断指征异常核型检出率;比较不良孕产史高龄产妇异常核型检出率;无创DNA高风险组高龄产妇异常核型检出率。结果:977例孕妇中羊水细胞培养成功973例,成功率为99.59%;在染色体结构异常上,其各种类型检出率较低;在染色体数目异常上,常染色体数目异常检出率较高(4.52%,P<0.05);染色体多态性共检出72例,其中短臂多态变异检出率为31.86%(31/973)、次缢痕区多态变异检出率为42.14%(41/973);35~39岁高危产妇异常核型检出率高于<35岁、≥40岁产妇(P<0.05);无创DNA高风险产妇染色体异常核型检出率高于其他产前诊断指征(P<0.05);不良孕产史高龄产妇各组异常核型检出率差异无统计学意义(P>0.05);21三体高风险组异常核型检出率高于13三体高风险组及性染色体数目异常组(P<0.05)。结论:对无创DNA 21三体高风险孕妇进行产前诊断具有重要意义,可有效降低染色体异常儿出生率。

Objective:To analyze the examination results of prenatal amniotic fluid chromosomes in 977 fetuses and the clinical implications.Methods:The medical data were retrospectively analyzed in 977 high-risk pregnant women with prenatal diagnosis indications diagnosed in our hospital between January 2015 and October 2019.The detection rate of abnormal karyotypes was compared in pregnant women with different ages and prenatal diagnosis indications,in elderly puerperae with history of abnormal pregnancy and childbirth and those of high-risk pregnancy undergone prenatal non-invasive DNA test.Results:Amniotic fluid was successfully cultured in 973 out of the 977 women,with a successful rate of 99.59%.The detection rate for diverse abnormal karyotype by chromosome structural abnormality was relatively lower,yet relatively higher for autosomal number abnormality than that of sex chromosomes(P<0.05).Chromosome polymorphism was detected in 72 women,and the detection rate was 31.86%(31/973)by short arm polymorphism variation and 42.14%(41/973)by polymorphic variation within secondary constriction region.High-risk pregnant women aged between 35 and 39 years had higher detected rate of abnormal karyotype than those aged<35 or≥40 years(P<0.05).The detection rate of chromosomal abnormal karyotype was higher in high-risk puerperae undergone non-invasive DNA test than other prenatal diagnosis indications(P<0.05).There was no significant difference in detection rate of abnormal karyotypes in elderly puerperae with history of abnormal pregnancy and childbirth(P>0.05),yet the detected abnormal karyotype rate was higher in trisomy 21 high-risk group than in trisomy 13 high-risk group(P<0.05).Conclusion:Non-invasive test of trisomy 21 in women with high-risk pregnancy can be of great significance in prenatal diagnosis,which may effectively reduce the abnormal birth from chromosomal abnormalities.