[1]王颖,黄秀琼,胡建苏,等.产前细菌人工染色体微珠技术检测联合染色体核型分析的应用研究及文献分析[J].中国计划生育和妇产科,2020,(9):50-53.
　WANG Ying,HUANG Xiuqiong,HU Jiansu,et al.Application and literature analysis of prenatal BoBs diagnosis technique combined with chromosome karyotype analysis[J].Chinese Journal of Family Planning & Gynecotokology,2020,(9):50-53.
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产前细菌人工染色体微珠技术检测联合染色体核型分析的应用研究及文献分析
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《中国计划生育和妇产科》[ISSN:1674-4020/CN:51-1708/R]

卷:
期数:
2020年9期
页码:
50-53
栏目:
论著与临床
出版日期:
2020-09-25

文章信息/Info

Title:
Application and literature analysis of prenatal BoBs diagnosis technique combined with chromosome karyotype analysis
作者:
王颖1; 黄秀琼2; 胡建苏3; 齐碧如1*
福建医科大学附属福州市第一医院，1.妇产科；2.检验科；3.超声科
Author(s):
WANG Ying1; HUANG Xiuqiong2; HU Jiansu3; QI Biru1*
1.Department of Obstetrics and Gynecology；2.Laboratory；3.Ultrasonography Lab，Fuzhou First Hospital Affiliated to Fujian Medical University，Fujian Fuzhou 350009，P.R.China
关键词:
细菌人工染色体微珠技术; 染色体核型分析; 产前诊断; 染色体异常
Keywords:
BACsonBeads technology; karyotype analysis; prenatal diagnosis; chromosomal abnormalities
分类号:
R 71453
摘要:
目的评估细菌人工染色体微珠技术(BACsonBeads，BoBs)检测和常规核型分析单独和联合用于高危孕妇产前诊断的临床价值。方法收集2018年4月至2019年6月福建医科大学附属福州市第一医院190例孕妇羊水样本，采用BoBs与常规核型分析检测，并在数值、结构或亚显微染色体异常方面进行一致性检验。结果BoBs检测结果显示176例(9263 %)样本为正常，14例(737 %)样本为异常;常规核型分析结果显示177例(9316 %)样本为正常，13例(684 %)样本为异常。两种方法联合使用后，190例样本中172例(9053 %)为正常，18例(947 %)为异常。BoBs与常规核型分析试验的Kappa系数为064(95 % CI:042086,P<0001)，有较强一致性。结论联合使用BoBs和常规核型分析比单独使用这两种方法能检测到更多的胎儿畸形。
Abstract:
ObjectiveTo evaluate the clinical value of bacterial artificial chromosome microbead technology (BACsonBeads, BoBs) detection and routine karyotyping alone or in combination in the prenatal diagnosis of highrisk pregnant women.MethodsCollected amniotic fluid samples of 190 pregnant women from Fuzhou First Hospital Affiliated to Fujian Medical University from April 2018 to June 2019. BoBs and routine karyotyping were used to test, and consistency tests were carried out on numerical, structural or submicroscopic chromosomal abnormalities.ResultsBoBs test results showed that 176 cases (9263 %) were normal and 14 cases (737 %) were abnormal. The results of conventional karyotype analysis showed 177 normal cases (9316 %) and 13 abnormal cases (684 %). When the two methods were combined, 172 cases (9053 %) of the 190 samples were normal, and 18 cases (947 %) were abnormal. The Kappa coefficient of BoBs and conventional karyotyping test was 064 (95 % CI:042086,P<0001), which showed a strong agreement.ConclusionThe combined use of BoBs and conventional karyotyping can detect more fetal malformations than the two methods alone.

参考文献/References:

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备注/Memo

备注/Memo:
福建省自然科学基金资助项目（项目编号：2018J01367）；福建省临床重点专科（产科）
更新日期/Last Update: 2020-09-25