[联合G显带核型分析与多重连接依赖探针扩增技术检测先天性心脏病胎儿的染色体异常]
[Combined G-banded karyotyping and multiplex ligation-dependent probe amplification for the detection of chromosomal abnormalities in fetuses with congenital heart defects].
作者信息
Liu Yang, Xie Jiansheng, Geng Qian, Xu Zhiyong, Wu Weiqin, Luo Fuwei, Li Suli, Wang Qin, Chen Wubin, Tan Hongxi, Zhang Hu
机构信息
Center for Prenatal Diagnosis, Shenzhen Maternity and Child Healthcare Hospital Affiliated to Southern Medical University, Shenzhen, Guangdong 518017, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):1-5. doi: 10.3760/cma.j.issn.1003-9406.2017.01.001.
OBJECTIVE
To assess the value of G-banded karyotyping in combination with multiplex ligation-dependent probe amplification (MLPA) as a tool for the detection of chromosomal abnormalities in fetuses with congenital heart defects.
METHODS
The combined method was used to analyze 104 fetuses with heart malformations identified by ultrasonography. Abnormal findings were confirmed with chromosomal microarray analysis (CMA).
RESULTS
Nineteen (18%) fetuses were found to harbor chromosomal aberrations by G-banded karyotyping and MLPA. For 93 cases, CMA has detected abnormalities in 14 cases including 10 pathogenic copy number variations (CNVs) and 4 CNVs of uncertain significance (VOUS). MLPA was able to detect all of the pathogenic CNVs and 1 VOUS CNV.
CONCLUSION
Combined use of G-banded karyotyping and MLPA is a rapid, low-cost and effective method to detect chromosomal abnormalities in fetuses with various heart malformations.
目的
评估G显带核型分析联合多重连接依赖探针扩增技术（MLPA）作为检测先天性心脏缺陷胎儿染色体异常工具的价值。
方法
采用联合方法分析104例经超声检查确诊为心脏畸形的胎儿。异常结果通过染色体微阵列分析（CMA）进行确认。
结果
通过G显带核型分析和MLPA发现19例（18%）胎儿存在染色体畸变。对于93例病例，CMA检测到14例异常，包括10例致病性拷贝数变异（CNV）和4例意义未明的CNV（VOUS）。MLPA能够检测到所有致病性CNV和1例VOUS CNV。
结论
联合使用G显带核型分析和MLPA是一种快速、低成本且有效的方法，可用于检测患有各种心脏畸形胎儿的染色体异常。
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