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染色体核型分析与SNP array技术联合在超声异常胎儿产前诊断中的应用 |
Application of chromosome karyotype analysis combined with SNP array technique in ultrasound prenatal diagnosis of abnormal fetus |
投稿时间:2022-05-30 修订日期:2023-01-13 |
DOI: |
中文关键词: 产前诊断 核型分析 CMA CNV SNP array检测。 |
英文关键词: Prenatal diagnosis Karyotype analysis CMA CNV SNP array detection. |
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中文摘要: |
目的:研究核型分析与SNP array技术在超声软指标异常时,对于胎儿产前诊断的诊断效力和实践价值。方法:研究对象为我院2020年10月至2022年1月产前超声筛查提示存在胎儿发育异常进行产前诊断的孕妇,研究方法即染色体核型分析及SNP array检测主要通过羊水抽取并分析孕妇羊水细胞相关成分的方式进行。在产前超声筛查预先显示异常的情况下,进一步比较染色体核型分析的结果与SNP array技术检出的染色体畸变之间的异同情况。结果:一共59名孕妇参与了本次研究,其中SNP array检测显示染色体异常的孕妇有9例(15.25%),核型分析结果为染色体异常的孕妇11例(18.64%),两者存在的检测结果差异具有统计学意义(P<0.01)。另有SNP array检测结果及核型分析结果均异常的孕妇1例(1.69%),核型分析结果正常但SNP array检测显示染色体异常的孕妇共10例(16.95%),核型分析显示染色体异常但SNP array检测结果正常8例(13.56%)。将UA1组与UA≥2组的检验结果进行比较,发现SNP array的染色体异常检出率明显更高,且在统计学角度存在显著差异(p<0.01)。结论:染色体核型分析与SNP array技术联合检测可提高胎儿染色体畸变检出率;建议产前超声筛查结果中异常数目不小于2项的孕妇后续增加上述两种检测,进一步确认是否存在染色体畸变的风险,最大程度地减少缺陷胎儿降生的可能。 |
英文摘要: |
Objective:To investigate the diagnostic efficacy and practical value of karyotype analysis and SNP array for prenatal diagnosis of fetus when the soft ultrasound indicators are abnormal。Methods:The subjects of the stud y were pregnant women who took prenatal diagnosis due to prenatal ultrasound screening indicating abnormal fetal development in our hospital fromOctober 2020 to January 2022. The research method, namely chromosome karyotype analysis and SNP array detection, was mainly carried out by amniotic fluid extraction and analysis of related components of pregnant women"s amniotic fluid cells. In cases where prenatal ultrasound screening revealed abnormalities in advance, the results of karyotype analysis were further compared with those of SNP array。 Results:A total of 59 pregnant women were enrolled in this study, including 9 cases (15.25%) of pregnant women with chromosomal abnormalities detected by SNP array and 11 cases (18.64%) of pregnant women with chromosomal abnormalities detected by karyotype analysis. The difference between the two groups was statistically significant (P<0.01). In addition, there was 1 pregnant woman (1.69%) with abnormal SNP array detection results and abnormal karyotype analysis results, and 10 pregnant women (16.95%) with normal karyotype analysis results but chromosomal abnormalities detected by SNP Array detection. Karyotype analysis detected chromosomal abnormalities but SNP array results were normal were 8 cases (13.56%). Comparing the results of UA 1 group with UA ≥2 group, detection rate of chromosome abnormality of SNP array was significantly higher, and the difference was statistically significant (P<0.01)。 Conclusion:Chromosome karyotype analysis combined with SNP array can improve the detection rate of fetal chromosome aberration. It is recommended that pregnant women with no less than 2 abnormalities in prenatal ultrasound screening results are followed up with the above two tests to further confirm whether there is a risk of chromosomal aberration, in order to minimize the possibility of the birth of fetus with defects。 |
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