摘要
目的探讨细菌人工染色体微球技术(BoBs)在贵州高危孕妇产前诊断中的应用价值,同时评估高龄孕妇染色体的异常情况,为优生优育提供有力证据。方法选取2017年9月至2019年1月在贵阳市妇幼保健院优生遗传科就诊的2000例具有异常临床指征单胎孕妇作为研究对象,其中高龄孕妇占47.85%(957/2000),行羊水穿刺后进行产前BoBs技术检测、染色体核型分析以及染色体微阵列分析技术(CMA)验证,并随访妊娠结局。结果BoBs技术分析总体染色体异常检出率为5.95%(119/2000),与染色体核型结果5.95%(119/2000)一致。两者共同检测出21三体综合征占4.00%(80/2000);18三体综合征占0.95%(19/2000);13三体综合征占0.25%(5/2000);性染色体数目异常占0.65%(13/2000)(其中1例45,X;1例48,XXYY;2例47,XXX;7例47,XXY),不同之处核型分析检出性染色体数目异常2例,BoBs未检测出;而2例22q11.2微缺失被BoBs检测到并通过CMA技术验证确定,但核型未分析出;在异常例数中,高龄孕妇占比约60.5%(72/119)。通过随访妊娠结局,其中3例异常结果家庭选择继续妊娠,并产下正常婴儿。结论产前BoBs技术可快速明确诊断常见染色体非整倍体数目异常和微缺失综合征,结合染色体核型和CMA技术可提高产前诊断准确性。
Objective To explore the application value of bacterial artificial chromosome on beads(BoBs)technology in prenatal diagnosis of high-risk pregnant women in Guizhou,and evaluating chromosomal abnormalities in older pregnant women,providing strong evidence for eugenics and fertility.Methods A total of 2000 singleton pregnant women with abnormal clinical indications who visited the Department of Eugenics and Genetics,Guiyang Maternal and Child Health Hospital from September 2017 to January 2019 were selected as the study subjects.Among them,47.85%(957/2000)were elderly pregnant women.Prenatal BoBs technology testing,chromosome karyotype analysis,and chromosomal microarray analysis(CMA)validation were performed after amniocentesis,and pregnancy outcomes were followed up.Results The overall detection rate of chromosomal abnormalities analyzed by BoBs technology was 5.95%(119/2000),consistent with the chromosomal karyotype result of 5.95%(119/2000).Both detected trisomy 21 syndrome,accounting for 4.00%(80/2000).Trisomy 18 syndrome accounted for 0.95%(19/2000).Trisomy 13 syndrome accounted for 0.25%(5/2000).Abnormal number of sex chromosomes accounted for 0.65%(13/2000)(including 1 case of 45,X;1 case of 48,XXYY;2 cases of 47,XXX;7 cases of 47,XXY).Karyotype analysis revealed 2 cases of abnormal number of sex chromosomes,but BoBs were not detected.However,two cases of 22q11.2 microdeletions were detected by BoBs and confirmed through CMA technology,but the karyotype was not analyzed.Among the abnormal cases,elderly pregnant women accounted for approximately 60.5%(72/119).Through follow-up of pregnancy outcomes,three families with abnormal outcomes chose to continue their pregnancy and gave birth to normal infants.Conclusion Prenatal BoBs technology can quickly and clearly diagnose common chromosomal aneuploidy abnormalities and microdeletion syndrome.Combining chromosomal karyotyping and CMA technology can improve the accuracy of prenatal diagnosis.
作者
李玉权
夏开德
郑慧玲
杨雪
汤贤英
LI Yuquan;XIA Kaide;ZHENG Huiling;YANG Xue;TANG Xianying(Department of Eugenics and Genetics,Guiyang Maternal and Child Health Care Hospital,Guizhou Province,Guiyang 550004,China)
出处
《中国当代医药》
2025年第2期21-26,共6页
China Modern Medicine
基金
贵州省卫生健康委科学技术基金项目(gzwjkj2019-1-198)
贵州省贵阳市卫生健康局科学技术计划项目(2021-32)。
关键词
细菌人工染色体微球技术
染色体核型分析
染色体微阵列分析
高龄
产前诊断
Bacterial artificial chromosome on beads
Chromosome karyotype analysis
Chromosome microarray analysis
Advanced age
Prenatal diagnosis
