染色体微阵列分析技术在不同产前诊断指征孕妇羊水中的应用价值  

Application value of chromosome microarray analysis in amniotic fluid of pregnant women with different prenatal diagnosis indications

作　　者：黄淑瑜[1] 眭建忠[1] 欧水英[1] HUANG Shu-yu;SUI Jian-zhong;OU Shui-ying(The First People's Hospital of Foshan,Foshan,Guangdong 528000,China)

机构地区：[1]佛山市第一人民医院,广东佛山528000

出　　处：《中国妇幼保健》2023年第24期4928-4931,共4页Maternal and Child Health Care of China

基　　金：广东省佛山市医学科研基金项目(2015249)。

摘　　要：目的探讨染色体微阵列分析(CMA)技术在不同产前诊断指征孕妇羊水中的应用价值。方法纳入2018年12月—2020年12月到佛山市第一人民医院产科进行产前诊断的孕妇共计889例,入组产妇均经染色体核型分析技术与CMA检测,分析对比两种方法的检测结果。结果889例产妇中,CMA检出103例(11.59%)异常病例,其中55例染色体非整倍体异常,致病性大片段(≥10 Mb)异常7例,与染色体核型分析检出符合率达100.00%,CMA较染色体核型分析多检出38例(4.27%)致病性微小片段(<10 Mb)异常。不同产前诊断指征中,超声异常、唐氏综合征筛查高风险、无创产前基因检测(NIPT)高风险及其他诊断异常的检出率分别为12.28%、9.57%、62.00%、5.87%。CMA在11例染色体核型正常病例中检出致病性基因拷贝数变异(CNV),将疾病诊断率提高了1.24%(11/889)。CMA在核型正常病例中检出25例(2.81%)临床意义不明CNV(VOUS)。在随访的280例产妇中,致病性CNV异常18例中妊娠结局异常15例,非整倍体异常42例中妊娠结局异常31例,VOUS 25例中妊娠结局异常6例。结论CMA可进一步提高染色体异常检出率,且能够在核型正常胎儿中检测出具有临床意义的CNV,是诊断染色体疾病的有效手段。对于VOUS患者,应做好全面、充分的遗传咨询。Objective To explore the application value of chromosome microarray analysis(CMA)in amniotic fluid of pregnant women with different prenatal diagnosis indications.Methods A total of 889 pregnant women who went to Department of Obstetrics in the First People's Hospital of Foshan for prenatal diagnosis from December 2018 to December 2020 were selected as observation objects,karyotype analysis and CMA test were performed,the results were compared and analyzed.Results Among 889 cases,103 abnormal cases were detected by CMA,of which 55 cases were abnormal in aneuploidy,7 cases were abnormal in pathogenic large fragments(≥10 Mb),and the coincidence rate of chromosome karyotype analysis was 100.00%.Compared with karyotype analysis,CMA detected 38 more cases(4.27%)of pathogenic small fragments(<10 Mb)abnormality.The detection rates of ultrasound abnormalities,high risk of Down's syndrome screening,high risk of noninvasive prenatal genetic testing(NIPT),and other diagnostic abnormalities in different prenatal diagnostic indications were 12.28%,9.57%,62.00%,and 5.87%,respectively.CMA detected pathogenic gene copy number variants(CNV)in 11 cases with normal karyotypes,which increased the disease diagnosis rate by 1.24%(11/889).CMA detected 25 cases(2.81%)of CNV of unknown clinical significance in normal karyotype cases.Among the 280 cases of parturients followed up,18 cases of pathogenic CNV abnormalities included 15 cases of abnormal pregnancy outcomes,42 cases of aneuploidy abnormalities included 31 cases of abnormal pregnancy outcomes,and 25 cases of CNV of unknown clinical significance included 6 cases with abnormal middle pregnancy outcome.Conclusion CMA can further increase the detection rate of chromosomal abnormalities,and it can detect clinically significant CNV in fetuses with normal karyotypes,which is an effective method for diagnosing chromosomal diseases.For VOUS patients,comprehensive and adequate genetic counseling should be done.

关 键 词：染色体疾病 产前诊断 染色体微阵列分析技术 

分 类 号：R714.5[医药卫生—妇产科学]