摘要
目的 探讨多重连接探针扩增（MLPA）技术应用于产前诊断22q11.2微缺失的临床应用价值.方法 选择2011年5月至2012年12月在南京医科大学附属南京妇幼保健院经胎儿超声心动图检查诊断为先天性心脏畸形、常规G显带染色体核型分析正常的胎儿62例,采用MLPA技术检测胎儿是否存在22q11.2微缺失,对阳性样本进行父母溯源;并采用微阵列比较基因组杂交（arrayCGH）技术进行全基因组扫描分析,验证MLPA检测结果.结果 MLPA检测结果显示,在62例心脏畸形胎儿中共检出5例22q11.2微缺失,阳性检出率为8％ （5/62）,其中4例是3M大小的典型微缺失,父母溯源为新发突变;1例是1.5M大小的微缺失,遗传于胎儿父亲.arrayCGH分析验证了22q11.2微缺失的存在及缺失的位置和大小.结论 MLPA用于产前诊断先天性心脏畸形胎儿的22q11.2微缺失具有临床指导价值,可为遗传咨询、生育指导和出生后干预提供依据.
Objective To explore the clinical value of multiplex ligation-dependent probe amplification （MLPA） technique performed in prenatal diagnosis of chromosome 22q11.2 microdeletion.Methods MLPA was performed to detect chromosome 22q1 1.2 mircodeletion in 62 fetuses with congenital heart defects by fetal echocardiography and a normal karyotype by standard G-banding analysis.For a 22q11.2 mircodeletion fetus,his parents were detected to know if it is inherited or de novo.The microdeletion was confirmed by array-based comparative genomic hybridization （arrayCGH）.Results MLPA revealed five 22q11.2 mircodeletions in the 62 fetuses,and the positive detection rate was 8％ （5/62）.Among these,4 cases carried the 3 M typically deletion which all are de novo,and l case carried the 1.5M non-typically deletion which was inherited from his father.arrayCGH confirmed the 22q11.2 microdeletions and delineated the precise location and size of microdeletions.Conclusion MLPA has clinical value in prenatal diagnosis of 22q11.2 mircodeletion,which could provide important genetic information for genetic consulting,pregnancy management and intervention after birth.
出处
《中华妇产科杂志》
CAS
CSCD
北大核心
2013年第11期824-827,共4页
Chinese Journal of Obstetrics and Gynecology
基金
江苏省卫生厅医学创新团队与领军人才培养项目（LJ201109）
江苏省科技项目临床医学科技专项（BL2012039）
江苏省卫生厅科技项目（H201068）
南京市卫生局医学科技发展项目（YKK11059）
南京市科技发展计划（201201064）
关键词
心脏缺损
先天性
染色体
人
22对
染色体缺失
产前诊断
多重连接探针扩增
Heart defects,congenital
Chromosomes,human,pair 22
Chromosome deletion
Prenatal diagnosis
Multiplex ligation-dependent probe amplification
