分析977例胎儿羊水染色体检查结果及其高危因素  

Analysis on the examination results and high risk factors of amniotic fluid chromosomes in the 977 fetuses

作　　者：魏慧娟[1] 张苏丽 李文红 WEI Hui-juan;ZHANG Su-li;LI Wen-hong(Department of Neonatology,Suzhou First People′s Hospital,Suzhou 234000,Anhui)

机构地区：[1]宿州市第一人民医院新生儿科,安徽宿州234000

出　　处：《中国优生与遗传杂志》2020年第12期1453-1456,1462,共5页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析977例胎儿羊水染色体检查结果及其高危因素。方法回顾性分析2015年1月-2020年10月在我院就诊的有产前诊断指征的977例高危孕妇病历资料,均于孕18~22w进行羊膜腔穿刺、羊水细胞培养、染色体制备,分析染色体核型。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,并利用多因素Logistic分析胎儿畸形的高危因素。结果977例孕妇中羊水培养成功973例,成功率为99.59%;常染色体数目异常检出率高于其他染色体异常核型检出率(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);夫妻一方存在染色体异常者产妇异常核型检出率高于唐氏儿分娩史产妇(P<0.05);21三体高风险组异常核型检出率高于13三体高风险及性染色体数目异常(P<0.05);经Logistic分析发现,孕期接触化学制剂(OR:1.471)、存在先兆流产(OR:1.536)、胎位异常(OR:1.765)、服用紧急避孕药(OR:1.844)是胎儿畸形的危险因素。结论在染色体核型异常中,常染色体数目异常的检出率最高,且夫妻一方存在染色体异常者产妇胎儿出现染色体异常核型的概率高于其他不良孕史产妇,孕期接触化学制剂、先兆流产、胎位异常、服用紧急避孕药等均是胎儿畸形的危险因素。Objective:To analyze the examination results and high risk factors of amniotic fluid chromosomes in the 977 fetuses.Methods:The case data of 977 high-risk pregnant women with prenatal diagnosis indications who were treated in the hospital from January 2015 to October 2020 were retrospectively analyzed.The amniocentesis,culture of amniotic fluid cells and chromosomes preparation were conducted with 18-22 gestational weeks.The chromosome karyotypes were analyzed.The detection rates of abnormal karyotypes among patients in different age groups and with different prenatal diagnostic indications were compared.The detection rates of abnormal karyotypes among advanced pregnant women with poor pregnancy-labor history were compared.The detection rates of abnormal karyotypes among advanced pregnant women in non-invasive DNA high-risk group were compared.The high risk factors of fetal malformations were analyzed by multivariate Logistic analysis.Results:Among the 977 pregnant women,there were 973 cases(99.59%)with successful amniotic fluid culture.The detection rate of autosomes number abnormalities was higher than that of other karyotypes abnormalities(P<0.05).There were 72 cases with chromosome polymorphisms,the detection rates of short-arm polymorphism variation and polymorphism variation in secondary constriction area were 31.86%(31/973)and 42.14%(41/973),respectively.The detection rate of abnormal karyotypes in high-risk pregnant women aged 35-39 years old was higher than that aged not older than 35 years old and not younger than 40 years old(P<0.05).The detection rate of abnormal karyotypes in pregnant women with non-invasive DNA high risk was higher than that with other prenatal diagnosis indications(P<0.05).The detection rate of abnormal karyotypes in pregnant women with chromosome abnormalities or in their spouse was higher than that in pregnant women with birth history of Down′s infant(P<0.05).The detection rate of abnormal karyotypes in high-risk trisomy 21 group was higher than that in high-risk trisomy 13 gro

关 键 词：羊水染色体检查 胎儿畸形 高危因素 

分 类 号：R714.5[医药卫生—妇产科学]