摘要
目的探讨单核苷酸多态性微阵列(single nucleotide polymorphismarray,SNP array)技术对超声心动图检查提示为圆锥动脉干畸形(conotruncal defects,CTD)的胎儿进行遗传学诊断的价值。方法收集75例超声心动图检查提示为CTD,而染色体核型分析结果未见明显异常的胎儿,采用SNParray技术进行全基因组拷贝数变异(copy number variation,CNV)检测,用ChAS等软件进行生物信息学分析。结果75例CTD胎儿中致病性CNV的检出率为9.3%(7/75),临床意义不明确的拷贝数变异检出率为2.7%(2/75),良性CNV的检出率为25.3%(19/75)。结论SNParray技术可以显著提高CTD遗传学病因的检出率,对于常规染色体核型分析未见异常的CTD患者,建议进一步行SNParray分析。SNParray在CTD胎儿的遗传病因学诊断中具有较高的临床应用价值。
Objective To assess the value of single nucleotide polymorphism array (SNP array) for the study of fetuses with conotruncal defects (CTD) detected by echocardiography. Methods SNP array was carried out on 75 fetuses with sonographically detected CTD but a normal karyotype. The results were analyzed with ChAS software. Results Pathogenic CNVs were detected in 7 (9.3%) of all cases. Variant of uncertain significance (VOUS) was detected in 2 (2. 7%) cases. Benign CNVs were detected in 19 (25.3%) cases. Conclusion SNP array is an effective method for delineating the etiology of fetuses with CTD, particularly for those with a normal karyotype.
作者
王瑾
赵燕
金华
陶靖
曹鲁泉
蔡艳
Wang Jin;Zhao Yan;Jin Hua;Tao Jing;Cao Luquan;Cai Yan(Prenatal Diagnostic Center, Jinan Maternity and Child Health Care Hospital, Jinan , Shandong 250001, China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2018年第3期347-350,共4页
Chinese Journal of Medical Genetics
基金
基金项目:山东省自然科学基金(ZR2014HP047)
山东省济南市科学技术发展计划项目(201201054)
济南市卫生和计划生育委员会科技发展计划项目(2017-2-05)
关键词
单核苷酸多态性微阵列
圆锥动脉干畸形
拷贝数变异
产前诊断
Single nucleotide polymorphism array
Conotruncal defects
Copy number variation
Prenatal diagnosis