Related Experiment Videos
[Prenatal diagnosis of 22q11 microdeletion syndrome]
Meiying Cai1, Hailong Huang, Na Lin
1Fujian Hospital for Material and Child Health Care, Fuzhou, Fujian 350001, China. ipxiu304@126.com.
Objective:
To establish a method for the prenatal diagnosis of 22q11 microdeletion syndrome.
Methods:
BACs-on-Beads (BoBs) and fluorescence in situ hybridization (FISH) were performed on a fetus for whom amniotic chromosomal culturing has failed and a pair of twin fetuses suspected for 22q11 deletion syndrome.
Results:
22q11 microdeletion was detected in all 3 fetuses by prenatal BoBs as well as FISH, with only one red signal detected at the DiGeorge/VCFS N25 site and two green signals on the 22q13.3 ARSA site.
Conclusion:
The combination of prenatal BoBs and FISH can provide a method for the prenatal diagnosis of 22q11 microdeletion.