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.