Related Experiment Video
Updated: Nov 11, 2025
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
[Prenatal diagnosis of a fetus with 8q13.3 microdeletion through chromosomal microarray analysis]
Huihua Rao1, Yanqiu Liu, Juhua Xiao
1Prenatal Diagnosis Center, Jiangxi Provincial Maternal and Child Health Care Hospital, Nanchang, Jiangxi 330006, China. lyq0914@126.com.
Objective:
To assess the value of chromosomal microarray analysis (CMA) for the prenatal diagnosis of a fetus with structural anomaly detected by ultrasonography.
Methods:
The fetus and its parents were subjected to chromosomal karyotyping and CMA analysis.
Results:
The fetus was found to carry a 46,XN,t(8;11)(q21.2;q13) translocation which was inherited from its mother. CMA has found no copy number variations (CNVs) in both parents but a de novo 2.00 Mb microdeletion in the fetus at 8q13.3.
Conclusion:
CMA is capable of detecting microdeletions and microduplications in fetuses with translocations detected by karyotyping analysis.
