Luo Chun-yu, Ma Ding-yuan, Zhang Jing-jing, Hu Ping, Cao Li, Ji Xiu-qing, Zhou Jing, Liu An, Wu Yun, Cheng Jian, Lin Ying, Xu Zheng-feng
Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China.
Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China. Email:
Zhonghua Fu Chan Ke Za Zhi. 2013 Nov;48(11):824-7.
To explore the clinical value of multiplex ligation-dependent probe amplification (MLPA) technique performed in prenatal diagnosis of chromosome 22q11.2 microdeletion.
MLPA was performed to detect chromosome 22q11.2 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).
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 3M typically deletion which all are de novo, and 1 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.
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.
探讨多重连接依赖探针扩增（MLPA）技术在产前诊断22q11.2微缺失中的临床价值。
应用MLPA技术对62例经胎儿超声心动图检查诊断为先天性心脏病且标准G显带分析核型正常的胎儿进行22q11.2微缺失检测。对于检测出22q11.2微缺失的胎儿，检测其父母以了解该微缺失是遗传的还是新发的。通过基于芯片的比较基因组杂交（arrayCGH）对微缺失进行确认。
MLPA在62例胎儿中检测出5例22q11.2微缺失，阳性检出率为8%（5/62）。其中，4例携带典型的3M缺失，均为新发；1例携带非典型的1.5M缺失，是从其父亲遗传而来。arrayCGH证实了22q11.2微缺失，并确定了微缺失的精确位置和大小。
MLPA在产前诊断22q11.2微缺失中具有临床价值，可为遗传咨询、孕期管理及出生后干预提供重要的遗传信息。
