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染色体微阵列分析在超声软指标产前诊断中的应用价值
宋婷婷,张建芳,党颖慧,徐盈,万陕宁,郑芸芸,黎昱,李春艳
0
(空军军医大学第一附属医院妇产科)
摘要:
目的 探讨染色体微阵列分析技术(CMA)在超声软指标异常胎儿产前诊断中的临床应用价值及染色体拷贝数变异(CNVs)与超声软指标异常的相关性。方法 选取2015年1月~2018年3月于我院就诊并接受介入性产前诊断的超声检查发现软指标异常且未合并明确结构异常的421例病例,所有病例均采用美国 Affymetrix公司的CytoScan 750k芯片进行CMA检测及常规方法进行G显带染色体核型分析,根据相关生物信息学数据库对CMA检测结果进行全面分析,定期复查胎儿的发育情况,随访妊娠结局及胎儿出生后的生长发育状况。结果 421例超声软指标异常患者中,29例检出明确致病性染色体异常(69%),其中染色体非整倍体占4.0%,致病性CNVs占2.9%。340例为单一软指标异常,检出明确致病性染色体异常21例(6.2%);81例为合并两项或以上超声软指标异常,检出明确致病性染色体异常8例(9.9%),两组差异有统计学意义(P<0.05)。不同部位的超声软指标异常胎儿染色体异常检出率:颈项透明层(NT)增厚或颈后皮肤皱褶(NF)增厚中检出明确致病性染色体异常6例(21.4%),脉络丛囊肿中检出明确致病性染色体异常2例(5.8%),侧脑室扩张中明确致病性染色体异常4例(5.5%),鼻骨发育不良中检出明确致病性染色体异常3例(11.1%),心室强光点中检出明确致病性染色体异常1例(1.6%),肾盂分离中未检出明确致病性染色体异常,肠管回声增强中检出明确致病性染色体异常2例(8.7%),股骨短小中检出明确致病性染色体异常2例(5.7%),单脐动脉中检出明确致病性染色体异常1例(3.7%)。结论 妊娠中晚期超声软指标两项及以上异常、鼻骨缺失或发育不良及NT或NF增厚、侧脑室扩张、肠管回声增强胎儿中的染色体异常检出率相对较高, 对合并这些软指标的胎儿进行介入性产前诊断非常必要。CMA可有效地检出染色体非整倍体及具有临床意义的微缺失或微重复,从而显著提高超声软指标异常胎儿染色体异常的检出率,可有效降低胎儿出生缺陷的发生。
关键词:  产前诊断  染色体微阵列分析  超声软指标  染色体异常
DOI:
基金项目:“十三五”国家重点研发计划资助(2016YFC1000703,2016YFC1000701)
Application value of chromosomal microarray analysis in prenatal diagnosis of fetuses with ultrasonographic soft markers
SONG Tingting,ZHANG Jianfang,DANG Yinghui,XU Ying,WAN Shanning,ZHENG Yunyun,LI Yu,LI Chunyan
(Department of Obstetrics and Gynecology, The First Affiliated Hospital of Air Force Medical U niversity)
Abstract:
Objective To explore the application value for fetuses with ultrasonographic soft markers by genomewide high resolution chromosomal microarray analysis (CMA) and investigate the relationship between Chromosome abnormalities and ultrasonographic soft markers. Methods 421 pregnant women with ultrasonographic soft markers without obvious structural abnormalities at the First Affiliated Hospital of AFMU(Air Force Medical University) from January 2015 to March 2018 were involved in the present study. All pregnant women performed invasive prenatal diagnosis. Microarray testing was performed using Affymetrix CytoScanTM 750k arrays and the results were analyzed according to biological information science database. The fetal development was regularly inspected. The follow-up were conducted with outcomes of pregnancy and fetal postnatal conditions. Results In 421 cases of ultrasonographic soft markers, there were 30 fetuses with pathogenic chromosome abnormalities,including 4.0% chromosome aneuploid and 3.1% pathogenic copy number variations. The detection rate of pathogenic chromosome abnormalities in multiple soft markers was 99%, and the detection rate of single soft markers was 6.2%. The difference was of statistic significance(P<0. 05). Different soft markers varied in the degree of association with fetal pathogenic chromosomal abnormalities. The detection rate of nuchal translucency or nuchal fold thickening, choroid plexus cysts, lateral cerebral ventriculomegaly, Nasal bone absence or hypoplasia11, echogenic bowel, short femur length and single umbilical artery were 21.4% (6/28), 5.8% (2/34), 5.5% (4/74), 1% (3/27), 8.7% (2/23), 5.7% (2/35) and 3.7%(1/27). Conclusion Multiple soft markers and ultrasonographic soft marker: nasal bone absence or hypoplasia, nuchal translucency or nuchal fold thickening, lateral cerebral ventriculomegaly correlate with marked increased risk for fetal pathogenic chromosomal abnormality. CMA can identify chromosomal microdeletion/microduplication unrecognizab1e by conventional karyotyping analysis. The application of CMA could increase the detection rate of pathogenic CNVs in fetuses with soft markers, and effectively reduce the occurrence of birth defects.
Key words:  Prenatal diagnosis  Chromosomal microarray analysis  Ultrasonographic soft marker  Chromosome abnormality

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