[Prenatal diagnosis of 22q11.2 microdeletion by multiplex ligation-dependent probe amplification].

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 Gbanding 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. Key words: Heart defects,congenital; Chromosomes,human,pair 22; Chromosome deletion; Prenatal diagnosis; Multiplex ligation-dependent probe amplification