[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 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.


CONCLUSIONS
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.
Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China.
Chun-yu
CY
Luo
Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China.
Ding-yuan
DY
Ma
Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China.
Jing-jing
JJ
Zhang
Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China.
Ping
P
Hu
Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China.
Li
L
Cao
Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China.
Xiu-qing
XQ
Ji
Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China.
Jing
J
Zhou
Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China.
An
A
Liu
Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China.
Yun
Y
Wu
Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China.
Jian
J
Cheng
Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China.
Ying
Y
Lin
Prenatal Diagnosis Center,Nanjing Maternity and Child Health Care Hospital, Affiliated to Nanjing Medical University, Nanjing 210004, China. Email: njxzf@126.com.
Zheng-feng
ZF
Xu
D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005260:Female; D005784:Gene Amplification; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D009154:Mutation / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*