Clinical value of chromosomal microarray analysis in prenatally diagnosed dextro-transposition of the great arteries.

Objectives

To evaluate the usefulness of chromosomal microarray analysis (CMA) in fetuses with dextro-transposition of the great arteries (d-TGA).

Methods

Thirty-two fetuses with d-TGA were examined for submicroscopic copy number variations (CNVs) using CMA.

Results

Among the 32 d-TGA fetuses, 23 had isolated lesions (71.9%) and nine had other cardiac or extracardiac anomalies (28.1%). CNVs were detected in 16/32 (50%) of the fetuses, including benign CNVs detected in nine fetuses (28.1%), pathogenic CNVs detected in three fetuses (9.4%), and variants of unknown significance (VOUS) detected in four fetuses (12.5%). There was no significant difference in the detection rates of pathogenic CNVs between the isolated and nonisolated groups. All four VOUS were found in the nonisolated group.

Conclusion

CMA might be an effective tool for identifying submicroscopic chromosomal aberrations in fetuses with d-TGA.