Application of chromosomal microarray analysis in prenatal diagnosis of fetal growth restriction
Application of chromosomal microarray analysis in prenatal diagnosis of fetal growth restriction
复制标题
染色体微阵列分析在胎儿生长受限产前诊断中的应用
DOI：
10.1002/pd.4844
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发表时间：
2016-07-01
影响因子：
3
通讯作者：
Luo, Yanmin
中科院分区：
文献类型：
--
作者：
Zhu, Hui;Lin, Shaobin;Luo, Yanmin
目的探讨染色体微阵列分析（CMA）在胎儿生长受限（FGR）产前诊断中的临床应用价值。结果在我们的研究中，核型分析发现染色体畸变的9.3%（10/107）的情况下，而CMA检测异常的18.8%（15/80）的情况下。CMA在核型正常的FGR病例中染色体异常检出率为11.4%。在53例无畸形的FGR患者中，CMA可提高染色体异常检出率（9.4%，95%CI，1.6%~ 17.3%）。在孕中期诊断的病例中，CMA检出的染色体异常率（50.0%; 95%CI，19.0%-81.0%）高于核型分析（30.0%; 95%CI，7.0%-65.0%）。此外，CMA（33.3%，95%CI，10.0%-65.0%）对不对称性FGR的检出率高于核型分析（16.7%，95%CI，2.0%-48.0%.ConclusionOur study highlights additional value of CMA compared to核型分析，用于评估孕中期诊断的不对称性FGR病例，而无超声异常。(c)2016约翰威利父子有限公司
ObjectiveTo investigate the clinical value of chromosomal microarray analysis (CMA) in the prenatal diagnosis of chromosomal abnormalities in fetal growth restriction (FGR) cases.MethodThe ultrasound findings of 107 FGR cases subjected to invasive prenatal diagnostic testing from March 2013 to October 2015 were retrospectively reviewed. Karyotyping was performed in all cases, and CMA was performed in 80 cases.ResultsIn our study, karyotype analysis identified chromosomal aberrations in 9.3% (10/107) of the cases, while CMA detected abnormalities in 18.8% (15/80) of the cases. CMA achieved a 11.4% detection rate of chromosomal abnormalities among FGR cases with a normal karyotype. Among 53 FGR cases without malformations, CMA increased (9.4%; 95%CI, 1.6%-17.3%) the detection rate of chromosomal abnormalities. CMA identified more chromosomal abnormalities (50.0%; 95%CI, 19.0%-81.0%) than karyotyping (30.0%; 95%CI, 7.0%-65.0%) among the cases diagnosed during the second trimester. Further, the detection rate in cases with asymmetric FGR was higher with CMA (33.3%; 95%CI, 10.0%-65.0%) than with karyotyping (16.7 %; 95%CI, 2.0%-48.0%).ConclusionOur study highlights the added value of CMA compared with karyotyping in evaluation of asymmetric FGR cases diagnosed during the second trimester without sonographic anomalies. (c) 2016 John Wiley & Sons, Ltd.