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Published on: February 21, 2015
[Prenatal diagnosis of 22q11.2 microdeletion by multiplex ligation-dependent probe amplification]
Chun-yu Luo1, Ding-yuan Ma1, Jing-jing Zhang1
1Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China.
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.
