Application of Chromosomal Microarray Analysis for Chromosomal Abnormalities of Spontaneously Aborted Fetuses

HU Ting, ZHU Hong-mei, ZHANG Zhu. et al

Abstract

To evaluate the clinical significance of chromosomal microarry analysis (CMA) for detection of chromosomal abnormalities in spontaneously aborted fetuses. Methods Chorionic villi samples from 431 spontaneously aborted fetuses were detected on the chromosomal abnormalities by CMA in our department form September 2014 to April 2016. Results The overall success rate of CMA was 100%, and 283 cases were detected with abnormalities (65.67%). Of these 283 cases with abnormal results, 126 were common aneuploidies (trisomy 13, 16, 18, 21, 22 as well as X and Y aneuploidies) (44.52%), 72 were uncommon aneuploidies (25.44%), 10 were composited aneuploidies (3.53%), 9 were partial aneuploidies (3.18%)，29 were polyploidy (10.25%), 4 were mosaicism (1.41%), 31 were with multiple duplications and deletions (10.96%), and 2 were microduplication/microdeletion syndromes. Conclusion CMA has great advantage for the detection of chromosomal abnormalities in spontaneously aborted fetuses comparing with fluorescence in situ hybridization (FISH). It is of great clinical significance for etiological diagnosis of spontaneous abortion and guidance on reproduction.

 

Keywords: Chromosomal microarray analysis, Spontaneous abortion, Chromosomal abnormalities 

 

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