ABSTRACT
Background: There is controversy whether chromosomal microarray (CMA) can replace karyotyping in prenatal diagnosis. Chromosomal microarray may detect more clinically significant chromosomal imbalances than karyotyping in a shorter time but does not detect inversions, triploidies or low mosaicisms. Case report: Amniocentesis was performed in the late second trimester based on ultrasound abnormalities. A CMA, obtained at 10 days, demonstrated a terminal deletion in 4q34.3-q35.2 and a duplication in 11q21-q25. The karyotype results, obtained 1 week later, showed a derivative chromosome 4 inherited from a maternal balanced 4;11 translocation. Conclusion: CMA and karyotype were complementary in this case, together permitting a more accurate diagnosis and genetic counseling than if only one method was used.
Declaration of interest
The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the article.