[Prenatal diagnosis of 22q11.2 microdeletion by multiplex ligation-dependent probe amplification].
Chun-yu Luo, Ding-yuan Ma, Jing-jing Zhang, Ping Hu, Li Cao, Xiu-qing Ji, Jing Zhou, An Liu, Yun Wu, Jian Cheng, Ying Lin, Zheng-feng Xu
Author Information
Chun-yu Luo: Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China.
Ding-yuan Ma: Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China.
Jing-jing Zhang: Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China.
Ping Hu: Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China.
Li Cao: Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China.
Xiu-qing Ji: Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China.
Jing Zhou: Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China.
An Liu: Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China.
Yun Wu: Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China.
Jian Cheng: Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China.
Ying Lin: Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China.
Zheng-feng Xu: Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China. Email: njxzf@126.com.
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 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). 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 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. 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.
