Objective: To assess the feasibility of chromosomal microarray analysis(CMA) for studying the correlation between birth defects and chromosomal aberrations.
Methods: A total of 2000 patients with birth defects were recruited for the CMA testing.
Results: Five hundred twenty two patients (26.1%) were found to have chromosomal abnormalities. These included 24 cases with numerical abnormalities, 11 with mosaicisms, and 11 with uniparental disomies. The remaining 476 cases were of well-known microdeletion or microduplication syndromes. The advantage of CMA over conventional karyotyping was demonstrated in many cases.
Conclusion: As a powerful tool for patients with birth defects, CMA can produce a higher diagnostic yield compared with conventional karyotyping.