[Prenatal diagnosis of 22q11 microdeletion syndrome]

Meiying Cai; Hailong Huang; Na Lin; Nan Guo; Xiaoqing Wu; Linjuan Su; Liangpu Xu

doi:10.3760/cma.j.issn.1003-9406.2017.02.008

[Prenatal diagnosis of 22q11 microdeletion syndrome]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):192-195. doi: 10.3760/cma.j.issn.1003-9406.2017.02.008.

[Article in Chinese]

Authors

Meiying Cai¹, Hailong Huang, Na Lin, Nan Guo, Xiaoqing Wu, Linjuan Su, Liangpu Xu

Affiliation

¹ Fujian Hospital for Material and Child Health Care, Fuzhou, Fujian 350001, China. [email protected].

PMID: 28397216
DOI: 10.3760/cma.j.issn.1003-9406.2017.02.008

Abstract

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.

MeSH terms

Adult
Chromosome Deletion
Chromosomes, Human, Pair 22 / genetics*
DiGeorge Syndrome / diagnosis
DiGeorge Syndrome / embryology
DiGeorge Syndrome / genetics*
Female
Fetal Diseases / diagnosis
Fetal Diseases / genetics*
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Pregnancy
Prenatal Diagnosis