1 694例孕妇羊水细胞染色体核型分析  

Chromosome karyotype analysis of amniotic fluid cells in 1694 pregnant women

作　　者：姜霞 俞少露 刘明艳[1] 徐贵江 JIANG Xia;yU Shaolu;LIU Mingyan;XU Guijiang(Medical Genetics Center,yangzhou Maternal and Child Health-Care Hospital Affiliated to yangzhou University Medical Academy,yangzhou,Jiangsu 225002,China)

机构地区：[1]扬州大学医学院附属扬州妇幼保健院医学遗传中心,江苏扬州225002

出　　处：《医药前沿》2025年第7期20-22,共3页Journal of Frontiers of Medicine

摘　　要：目的 分析1 694例孕妇羊水细胞染色体核型结果。方法 选取2020年1月—2022年12月扬州大学医学院附属扬州妇幼保健院医学遗传中心收治的1 700例因各种高危因素接受羊膜腔穿刺的孕妇为研究对象。在超声引导下行羊膜腔穿刺术,取25 m L羊水行羊水细胞培养及染色体制备,并对羊水细胞染色体核型结果进行分析。结果 在1 700例羊膜腔穿刺孕妇中,羊水细胞培养成功率为99.6%(1 694/1 700)。羊膜腔穿刺指征统计结果显示,21-三体综合征筛查高风险和年龄≥35岁是孕妇行羊膜腔穿刺的主要原因,二者合计达70.8%。羊水细胞染色体核型分析结果显示,正常核型1 594例(94.1%),异常核型69例(4.1%),其他平衡易位及染色体多肽31例(1.8%)。69例异常核型中主要为21-三体,占比59.4%;其次是性染色体异常,占比29.0%。产前无创筛查结果异常对21-三体、性染色体异常和8-三体的筛查贡献最大,分别为18例(43.9%)、13例(65.0%)和3例(50.0%)。结论 羊膜腔穿刺联合细胞遗传学检测是一种安全、可靠的产前诊断方法,在孕中期就能诊断出异常核型的胎儿,对于出生缺陷控制有重要意义。Objective To analyze the chromosome karyotype results of amniotic fluid cells in 1694 pregnant women.Methods A total of 1700 pregnant women who received amniocentesis due to various high-risk factors in the Medical Genetics Center in Yangzhou Maternal and Child Health-Care Hospital Affiliated to Yangzhou University Medical Academy from January 2020 to December 2022 were selected as the research objects.Ultrasound-guided amniocentesis was performed,and 25 mL of amniotic fluid was taken for amniotic fluid cell culture and chromosome preparation,and the chromosome karyotype results of amniotic fluid cells were analyzed.Results The success rate of amniotic fluid cell culture was 99.6%(1694/1700)in 1700 pregnant women with amniocentesis.The statistical results of indications for amniocentesis showed that high risk of Down's syndrome screening and age equal or more than 35 years old were the main reasons for amniocentesis in pregnant women,and the two indications amounted to 70.8%.The results of chromosome karyotype analysis of amniotic fluid cells showed that there were 1594 cases(94.1%)with normal karyotype,69 cases(4.1%)with abnormal karyotype,and 31 cases(1.8%)with other balanced translocations and chromosomal polypeptides.Among the 69 cases of abnormal karyotypes,21-trisomy was the main type,which accounted for 59.4%.Sex chromosome abnormality was followed by,which accounted for 29.0%.Abnormal prenatal non-invasive screening results contributed the most to the screening for 21-trisomy,sex chromosome abnormalities and 8-trisomy,which were 18 cases(43.9%),13 cases(65.0%)and 3 cases(50.0%),respectively.Conclusions Amniocentesis combined with cytogenetic assay is a safe and reliable prenatal diagnosis method,which can diagnose fetuses with abnormal karyotypes in the second trimester of pregnancy and it is of great significance for the control of birth defects.

关 键 词：孕妇 染色体核型 羊膜腔穿刺 羊水细胞 细胞培养 产前诊断 21-三体综合征筛查 

分 类 号：R596[医药卫生—内科学]